Metabolic/Pain Flashcards

Question

Presenting symptoms of organic acidemias

Answer 1

1. Encephalopathy 2. Hyperammonemia 3. Acidosis

Answer 2

The accumulation of lactate and ketone bodies

Answer 3

Organic acidemias

Answer 4

A specific enzyme deficiency in methylmalonate metabolism or from one of several defects in cobalamin (vitamin B12) metabolism.

Answer 5

1. Several types of MMA can respond dramatically to administration of parenteral cobalamin. 2. Many patients require natural protein restricted diets and carnitine supplementation to prevent metabolic decompensation. 3. Aggressive support with parental caloric sources is needed during fasting and illness.

Answer 6

Acute basal ganglia injury

Answer 7

1. Developmental delays 2. Optic neuropathy 3. Renal failure

Answer 8

Organic acidemias

Answer 9

Similar to methylmalonic acidemia (MMA): 1. Developmental delays 2. Optic neuropathy 3. Renal failure

Answer 10

Organic acidemias

Answer 11

Severe acute basal ganglia injury in the setting of fasting and illness prior to age 6 years

Answer 12

Newborn screening

Answer 13

Aggressive parenteral caloric support during illness

Answer 14

“cerebral organic acidemia” because symptomatic individuals have neurological signs and symptoms without systemic metabolic decompensation.

Answer 15

Aggressive parenteral caloric support during illness can prevent severe acute basal ganglia injury in the majority of affected children.

Answer 16

1. Macrocephaly | 2. Occasionally subdural hemorrhage

Answer 17

Newborn screening

Answer 18

It is a critical component of the metabolic adaptation to fasting.

Answer 19

Fatty acid oxidation disorder

Answer 20

Asymptomatic unless fasting | Hypoglycemia, encephalopathy, and acute liver failure with prolonged fasting.

Answer 21

Parenteral nutrition during fasting

Answer 22

Fatty acid oxidation disorder

Answer 23

1. Hypoglycemia with fasting. 2. Children with severe VLCADD can develop cardiomyopathy in infancy. 3. Later in childhood, patients with VLCADD get recurrent rhabdomyolysis, requiring intravenous hydration to prevent pigment nephropathy during acute episodes.

Answer 24

1. Intravenous hydration to prevent pigment nephropathy during acute episodes. 2. Infants with severe VLCADD are managed with a fat-restricted diet in addition to avoidance of fasting.

Answer 25

Similar symptoms to the fatty acid oxidation disorders

Answer 26

Similar symptoms to the fatty acid oxidation disorders

Answer 27

Similar management to the fatty acid oxidation disorders | 1. Supplementation of carnitine to replace renal losses

Answer 28

Similar management to the fatty acid oxidation disorders

Answer 29

Disorder of carnitine metabolism and transport

Answer 30

Disorder of carnitine metabolism and transport

Answer 31

Lysosomal disorder

Answer 32

Newborn screening coverage of lysosomal disorders varies widely by geographical region

Answer 33

Partial enzyme deficiency

Answer 34

1. Hepatomegaly 2. Splenomegaly 3. Pancytopenia 4. Bone lesions 5. Poor growth 6. Fatigue. 7. Progressive neurodegeneration with more severe enzyme deficiency

Answer 35

Enzyme replacement therapy or oral substrate reduction therapy

Answer 36

Lysosomal disorder | X-linked disorder

Answer 37

``` Only in males during childhood: 1. Heat intolerance 2. Abdominal pain 3. Acroparesthesias 4. Angiokeratomas of the skin in childhood. Adults with Fabry disease are at risk for: 1. Renal failure 2. Cardiomyopathy 3. Thrombotic stroke ```

Answer 38

Enzyme replacement therapy and oral chaperone therapy for some specific mutations.

Answer 39

Lysosomal disorder

Answer 40

Accumulation of mucopolysaccharides in the lysosomes

Answer 41

1. Skeletal dysplasia 2. Characteristic facial features 3. Recurrent otitis media 4. Macrocephaly 5. Cardiac valvular disease 6. Abdominal organomegaly. 7. Neurodegenerative course in more severe enzyme deficiency that can be altered with bone marrow transplantation.

Answer 42

1. Bone marrow transplantation to alter neurodegenerative course 2. Enzyme replacement therapy for some aspects of disease

Answer 43

Defects in the enzymes of glycogenolysis

Answer 44

Dependent on the tissue distribution of the specific enzyme that is deficient. 1. Hepatomegaly, 2. Hypoglycemia 3. Rhabdomyolysis

Answer 45

Glycogen storage disorder (GSD)

Answer 46

Severe hypoglycemia with relatively short fasting

Answer 47

Both gluconeogenesis and glycogenolysis are impaired.

Answer 48

1. Administration of overnight feeding via gastrostomy or with the administration of uncooked cornstarch (a slowly digested carbohydrate polymer). 2. Screening for tumors

Answer 49

Hepatocellular carcinoma (HCC) as they age and are screened for tumors

Answer 50

Glycogen storage disorders (GSDs)?

Answer 51

1. Hepatomegaly | 2. Fasting hypoglycemia

Answer 52

Newborn screening varies by geographical region

Answer 53

X-linked | Peroxisomal disorder

Answer 54

A minority of boys: 1. A rapidly progressive inflammatory demyelinating condition in childhood that can be arrested with bone marrow transplantation. The majority of boys: 1. Adrenal insufficiency and myelopathy, presenting as slowly progressive spasticity of the lower extremities

Answer 55

Mutations in either mtDNA or in nuclear genes with protein products that are targeted to the mitochondria.

Answer 56

``` The heteroplasmy (percentage of affected mitochondria) of the individual with mitochondrial disease. Some symptoms are specific to particular mitochondrial diseases, though clinical presentations can vary widely even among family members with the same mutation. ```

Answer 57

1. Retinitis pigmentosa 2. Optic atrophy 3. Ophthalmoplegia 4. Ataxia 5. Dystonia 6. Developmental regression 7. Epilepsy 8. Peripheral neuropathy 9. Cardiomyopathy 10. Arrhythmias 11. Sensorineural hearing loss 12. Hepatopathy 13. Skeletal myopathy 14. Diabetes mellitus 15. Other symptoms.

Answer 58

1. Mitochondrial (matrilineal) 2. Autosomal dominant 3. Autosomal recessive 4. X-linked

Answer 59

End-organ damage including progressive neurological injury or death.

Answer 60

1. Sepsis-like presentations 2. Intellectual disability 3. Seizures 4. Sudden infant death 5. Neurological impairment

Answer 61

1. Clinical presentation 2. The age of onset 3. Tissues or organ systems involved 4. Defective metabolic pathways 5. Subcellular localization of the underlying defect.

Answer 62

1. The clinical presentation | 2. Long-term prognosis

Answer 63

1. The deficiency of an enzyme, its cofactors, or biochemical transporters that lead to the deficiency of a required metabolite 2. The buildup of a toxic compound 3. A combination of both processes

Answer 64

Often experience intermittent illness separated by periods of being well.

Answer 65

1. Lethargy 2. Poor tone 3. Poor feeding 4. Hypothermia 5. Irritability 6. Seizures.

Answer 66

1. Plasma ammonia 2. Blood glucose 3. Anion gap

Answer 67

An organic acid disorder.

Answer 68

Significant ketosis

Answer 69

1. Introduction of new foods 2. Metabolic stress associated with fasting or fever 3. Introduction of fructose or sucrose in the diet may lead to decompensation in hereditary fructose intolerance (introduction to fruits). 4. Increased protein intake may unmask disorders of ammonia detoxification. 5. Sleeping through the night (fasting)

Answer 70

1. Encephalopathy 2. Metabolic acidosis 3. Hyperammonemia 4. Vomiting 5. Lethargy 6. Other neurological findings

Answer 71

When metabolites are present in highest concentration in blood and urine at presentation.

Answer 72

1. Fever 2. Infection 3. Fasting 4. Other catabolic stresses

Answer 73

Blood ammonia (>1,000 µmol/L) more than 10 times normal in the neonatal period.

Answer 74

1. Poor feeding 2. Hypotonia 3. Apnea 4. Hypothermia 5. Vomiting 6. Rapidly giving way to coma 7. Occasionally to intractable seizures 8. Respiratory alkalosis is common 9. Death occurs in hours to days if the condition remains untreated.

Answer 75

1. Depression of the central nervous system 2. Poor feeding 3. Vomiting. 4. Respiratory alkalosis may occur.

Answer 76

200-400 µmol/L

Answer 77

Blood ammonia (>1,000 µmol/L) more than 10 times normal in the neonatal period.

Answer 78

1. Partial or more distal blocks in urea synthesis 2. Commonly by disorders of organic acid metabolism (producing a metabolic acidosis) that secondarily interferes with the elimination of nitrogen

Answer 79

Infants who are affected by defects in the urea cycle may continue to do well while receiving the low-protein intake of breast milk, developing clinical hyperammonemia when dietary protein is increased or when catabolic stress occurs.

Answer 80

1. Vomiting 2. Lethargy 3. May progress to coma. 4. Older children may have neuropsychiatric or behavioral abnormalities

Answer 81

200-500 µmol/L

Answer 82

May be mistakenly thought to have Reye syndrome

Answer 83

1. Seizures 2. Coma 3. Ataxia

Answer 84

Hepatocellular damage

Answer 85

1. Cataracts | 2. Dislocated lenses

Answer 86

1. Tubular dysfunction | 2. Cysts

Answer 87

1. Cardiomyopathy | 2. Pericardial effusion

Answer 88

1. Disorders of fatty acid oxidation 2. Mitochondrial function/oxidative phosphorylation 3. Carbohydrate metabolism

Answer 89

1. Myopathy 2. Central nervous system dysfunction 3. Intellectual disability 4. Seizures 5. Cardiomyopathy 6. Vomiting 7. Hypoglycemia 8. Renal tubular acidosis

Answer 90

A common condition in which tolerance for fasting is impaired

Answer 91

The second year of life and occurs in otherwise healthy children.

Answer 92

Symptomatic hypoglycemia with seizures or coma occurs

Answer 93

During periods of stress: 1. Frequent snacks 2. The provision of glucose

Answer 94

A high anion gap metabolic acidosis with or without ketosis

Answer 95

1. Carbohydrate-deficient glycoprotein syndrome 2. Disorders of cholesterol biosynthesis (e.g., Smith-Lemli-Opitz syndrome) 3. Disorders of copper transport (e.g., Menkes syndrome, occipital horn syndrome) 4. Maternal PKU syndrome 5. Glutaric aciduria II (also called multiple acyl-coenzyme A [CoA] dehydrogenase deficiency) 6. Aicardi-Goutieres syndrome (mimics congenital infection) 7. Several storage diseases

Answer 96

Accumulation of incompletely metabolized macromolecules

Answer 97

1. Glycogen storage diseases (GSDsII) 2. Niemann-Pick disease 3. Mucopolysaccharide disorders

Answer 98

1. Vomiting 2. Acidosis 3. Hypoglycemia 4. Ketosis (or lack of appropriate ketosis ) 5. Intercurrent infection 6. Anorexia/failure to feed 7. Lethargy proceeding to coma 8. Seizures 9. Hyperventilation or hypoventilation

Answer 99

1. Cardiac, 2. Renal 3. Neurological 4. Developmental assessment 5. Changes in mental status 6. Seizures 7. Abnormal tone 8. Visual symptoms 9. Poor developmental progress 10. Global developmental delay 11. Loss of developmental milestones (regression), 12. Cardiomyopathy 13. Cardiac failure 14. Cystic renal malformation 15. Renal tubular dysfunction

Answer 100

Autosomal recessive

Answer 101

Designed to maximize detection of affected infants but is not diagnostic.

Answer 102

1. Must be followed by prompt clinical assessment as recommended by the screening program and/or metabolic specialist. 2. In many cases children will also be provided therapy until the completion of definitive testing. 3. Definitive testing must be carried out promptly and accurately.

Answer 103

Plasma amino acid profile

Answer 104

Urine amino acid profile

Answer 105

1. Urine acylglycine profile 2. Plasma acylcarnitine 3. Plasma carnitines 4. Urine organic acid profile

Answer 106

1. Urine acylglycine profile 2. Plasma acylcarnitine 3. Plasma carnitines 4. Urine organic acid profile

Answer 107

Plasma carnitines

Answer 108

1. Glycine encephalopathy (CSF amino acid profile when compared to concurrent plasma amino acids) 2. Disorders of neurotransmitter synthesis (biogenic amine profile) 3. Glucose transporter (GLUT1) deficiency (plasma-to-CSF glucose ratio) 4. Serine synthesis defect (amino acid profile)

Answer 109

1. Diseases that predominantly affect the liver and have a direct influence on blood glucose (types I, VI, and VIII) 2. Diseases that predominantly involve muscles and affect the ability to do anaerobic work (types V and VII) 3. Diseases that can affect the liver and muscles and directly influence blood glucose and muscle metabolism (type III) 4. Diseases that affect various tissues but have no direct effect on blood glucose or on the ability to do anaerobic work (types II and IV)

Answer 110

Maintaining satisfactory blood glucose levels or supplying alternative energy sources to muscle: Glucose-6-phosphatase deficiency (type I): 1. Nocturnal intragastric feedings of glucose during the first 1 or 2 years of life 2. Snacks and uncooked cornstarch may be satisfactory or nocturnal intragastric feedings. ``` Pompe disease (type II): 1. Enzyme replacement early in life is effective in , which involves cardiac and skeletal muscle. ``` No specific treatment exists for the diseases of muscle that impair skeletal muscle ischemic exercise.

Answer 111

An autosomal recessive disease caused by deficiency of galactose-1-phosphate uridyltransferase

Answer 112

Clinical manifestations are most striking in a neonate who, when fed milk, generally exhibits evidence of 1. Liver failure (hyperbilirubinemia, disorders of coagulation, hypoglycemia) 2. Disordered renal tubular function (acidosis, glycosuria, aminoaciduria) 3. Cataracts 4. Increased risk for severe neonatal Escherichia coli sepsis. (These major effects are limited to the first few years of life) Infants may die in the first week of life. Older Children: 1. Learning disorders despite dietary compliance. 2. Girls usually develop premature ovarian failure despite treatment. Other symptoms: 1. Hypoglycemia 2. Albuminuria

Answer 113

1. The diagnosis is made by showing extreme reduction in erythrocyte galactose-1-phosphate uridyltransferase activity. 2. DNA testing for pathogenic variants in galactose-1-phosphate uridyltransferase confirms the diagnosis and may be useful in predicting prognosis.

Answer 114

Treatment by the elimination of dietary galactose results in rapid correction of abnormalities, but infants who are extremely ill before treatment may die before therapy is effective.

Answer 115

An autosomal recessive disorder leading to the accumulation of galactose in body fluids, which results in the formation of galactitol (dulcitol) through the action of aldose reductase

Answer 116

1. Cataract formation (homozygous develop cataracts after the neonatal period) (heterozygous t risk for cataracts as adults) 2. Increased intracranial pressure rarely

Answer 117

Deficiency of fructose-1-phosphate aldolase leading to the intracellular accumulation of fructose 1-phosphate

Answer 118

1. Emesis 2. Hypoglycemia 3. Severe liver and kidney disease

Answer 119

Elimination of fructose and sucrose from the diet prevents clinical disease.

Answer 120

Fructokinase deficiency without clinical consequence

Answer 121

1. Polyuria 2. Polydipsia 3. Polyphagia 4. Weight loss 5. Fatigue. 6. Ketosis or acidosis 7. Advanced stages of metabolic decompensation if symptoms of hyperglycemia were not recognized. 8. Risk of cerebral edema in the pediatric population.

Answer 122

1. A random plasma glucose ≥200 mg/dL with symptoms of diabetes 2. Hemoglobin A1c ≥ 6.5% with symptoms of diabetes 3. A fasting (at least 8 hours) plasma glucose ≥126 mg/dL 4. 2-hour plasma glucose ≥200 mg/dL during an oral glucose tolerance test using a glucose load of 1.75 grams/kg (up to 75 grams). If random plasma glucose ≥200 mg/dL or fasting plasma glucose ≥126 mg/dL without symptoms, repeat test another day

Answer 123

1. A glucose ≥200 mg/dL 2. Venous pH <7.3 or HCO3 <15 mM 3. Ketonuria or ketonemia.

Answer 124

1. A glucose ≥200 mg/dL 2. Venous pH ≥7.3 or HCO3 ≥15 mM 3. The presence of ketones in urine or blood.

Answer 125

1. A glucose >600 mg/dL 2. Serum osmolality >330 mOsm, 3. Venous pH >7.3 4. HCO3 >15 mM 5. Absent to small ketonuria or ketonemia. It is often accompanied by hypernatremia, significant dehydration, and altered mental status.

Answer 126

1. Glucose >600 mg/dL 2. Serum osmolality >320 mOsm 3. Venous pH <7.3 4. HCO3 <15 mM 5. Mmoderate or large ketonuria or ketonemia Often with hypernatremia, significant dehydration, and altered mental status,

Answer 127

1. Blood gas 2. Basic metabolic panel (to evaluate electrolytes, CO2, BUN, and creatinine) 3. Phosphorus 4. Magnesium 5. Insulin 6. C-peptide 7. Hemoglobin A1c 8. GAD-65 antibodies 9. Islet cell antibodies 10. insulin autoantibodies 11. Urine 12. EKG for significant electrolyte deficiencies 13. Head CT/retinal exam for altered mental status

Answer 128

1. A bolus of 10 to 20 mL/kg of normal saline (NS) over a 1-hour period is typically used in a mildly to moderately dehydrated patient (DEGREE OF DEHYDRATION IS USUALLY UNDERESTIMATED) 2. Repeat bolus aggressively or conservatively dependent on patient history (hypovolemic shock or congestive heart failure ) 3. Fluid deficit should be replaced evenly over a minimum of 48 hours, in addition to maintenance fluids. 4. Ongoing losses may also need to be replaced if excessive (urine output >4 mL/kg/hr, vomiting, and Kussmaul respirations) 5. Fluid management must be reassessed at a minimum of every 4 hours. 6. Inadequate hydration will contribute to persistent acidosis. Prolonged administration of hypertonic fluids can result in hyperchloremic metabolic acidosis. 7. Slower fluid replacement should be considered in a patient who is very young, has had a prolonged prodrome, has severe acidosis, has an elevated corrected sodium, or has significantly elevated serum osmolality (>300 mOsm). 8. NPO during the initial stabilization due to potential risk of decompensation. 9. NS should be used for replacement fluids and maintenance fluids when in DKA; transitioning to ½ NS once the acidosis resolves. 10. Sodium content of the fluid may need to be adjusted, depending on the patient’s age, serum osmolality, and serum electrolytes. 11. If serum osmolality is <300 mOsm, aim to replace the deficit over a 48-hour period. If serum osmolality is ≥300 mOsm or dehydration is >10%, aim to replace the deficit over a 48-hour period or longer. 12. The volume of initial resuscitation fluid should be subtracted from the total deficit when calculating the volume that should be replaced over the following 48 hours. 13. NS 50ml/kg for 5% dehydration NS 100ml/kg for 10% dehydration

Answer 129

1. Potassium is depleted in DKA and should be added if serum potassium is <6.0 mEq/L, the patient has voided, and the ECG demonstrates an absence of peaked T waves. 2. Adding potassium helps avoid the development of life-threatening arrhythmias that can occur if hypokalemia develops with correction of the acidosis as potassium will be driven back into cells as the acidosis resolves 3. Potassium can be added to fluids in the form of potassium phosphate and potassium chloride.

Answer 130

1. Total body phosphorus is depleted in DKA. 2. Symptomatic hypophosphatemia is extremely rare 3. Intravenous replacement of phosphorus is controversial. 4. Phosphate supplementation may be considered if there has been a prolonged period of illness or if an extended period of fasting is anticipated. 5. Potassium phosphate can be used along with potassium chloride in this instance to provide both potassium and phosphorus intravenously. 6. Calcium levels must be monitored carefully as hypocalcemia and arrhythmia can develop. 7. If hypocalcemia develops, the phosphate infusion should be discontinued immediately.

Answer 131

1. DKA is the result of increased ketogenesis due to insulin deficiency and should reverse with insulin therapy. 2. Bicarbonate is not recommended in the management of DKA 3. Sudden correction of blood pH can paradoxically lower cerebrospinal fluid pH. 4. Bicarbonate has been shown to be an independent risk factor for cerebral edema. 5. Bicarbonate production will occur as ketones are metabolized once insulin is administered altering calculations 6. Bicarbonate also affects potassium potentially altering potassium administration

Answer 132

1. Any patient with fasting hyperglycemia, ketosis, and metabolic abnormalities requires insulin therapy to reverse these derangements. 2. insulin infusion should be initiated within the first 2 hours of treatment of DKA. 3. The initial insulin infusion rate should be 0.1 units/kg/hour. 4. Mix insulin with NS at a concentration of 0.1 units/mL (50 units of regular insulin in 500 mL of 0.9% NS). 5. The insulin infusion rate should be maintained until the ketosis has markedly improved or resolved. 6. Since insulin will lower blood sugar before resolution of the ketosis and acidosis, dextrose will need to be added to the intravenous fluids at some point to avoid a rapid decline in serum glucose or frank hypoglycemia, or both. 7. Generally, dextrose is added to the fluids when serum glucose levels fall below 300 mg/dL, but in certain circumstances dextrose may need to be added earlier (see below). 8. After initial fluid management and initiation of insulin therapy, the goal should be to decrease blood glucose by 50 to 100 mg/dL/hr. 9. The goal is to maintain the corrected serum sodium and to see an increase in the measured serum sodium as the blood glucose level falls. 10. If marked hyperosmolality is present (glucose >1200 mg/dL, serum osmolality >300 mOsm), the therapeutic goals should be adjusted to replace the fluid deficit over a period of 48 to 72 hours, and after an initial period of rehydration, to lower the blood glucose by 50 mg/dL/hr

Answer 133

1. Monitor blood pH and electrolytes every 1 to 2 hours until the patient is improving (pH >7.3 or bicarbonate >15 mM) and then every 2 to 4 hours.

Answer 134

Every hour

Answer 135

Every 1-2 hours

Answer 136

1. Blood pH 2. Electrolytes 3. Glucose levels 4. Neurological status 5. Urine output (I's & O's)

Answer 137

1. Hypoglycemia 2. Hypokalemia 3. Hypophosphatemia 4. Hypocalcemia 5. Hypernatremia 6. Fluid overload with edema 7. Acute respiratory distress syndrome 8. Symptomatic cerebral edema.

Answer 138

Cerebral edema

Answer 139

1. Younger than 5 years of age 2. Severe acidosis 3. Severe dehydration 4. High serum osmolarity.

Answer 140

1. Any change in sensorium 2. Headache 3. Increased drowsiness 4. Deepening coma 5. Cranial nerve abnormalities. 6. Cushing's triad (increased blood pressure, decreased heart rate, irregular respirations)

Answer 141

1. Mannitol (0.25–0.5g/kg over 20 minutes) in patients with signs of cerebral edema and impending respiratory failure. If there is no initial response, it should be repeated in 2 hours. 2. Hypertonic saline (3%) (5 mL/kg over 30 minutes), may be a reasonable alternative to mannitol if there is concern for hypotension (and cerebral hypoperfusion) due to an osmotic diuresis that could be seen with mannitol administration.

Answer 142

1. Able to tolerate oral intake 2. A normal mental status 3. Resolved acidosis (bicarbonate ≥15 mM or pH ≥7.3).

Answer 143

1. The first dose of subcutaneous insulin should be given 15 to 60 minutes (15–30 minutes with rapid acting, 30–60 minutes with regular insulin) before stopping the intravenous infusion to allow sufficient time for absorption. 2. A typical starting daily dose of insulin for a patient with type 1 diabetes is between 0.4 and 1 units/kg/day, 3. Patients with previously diagnosed diabetes can usually be started on their home insulin regimen. 4. For patients in DKA, it is convenient, when possible, to give long-acting basal insulin while still on infusions in order to help with the transition to subcutaneous insulin.

Answer 144

1. May be seen in type 1 diabetes although more common in type 2 diabetes. 2. Requires that adequate fluid administration precede insulin administration to avoid cardiovascular collapse in the ICU setting

Answer 145

1. Oral rehydration and subcutaneous insulin therapy (not appropriate in patients with hyperosmolality, nausea or vomiting, or another issue precluding oral intake.)

Answer 146

1. Hyperglycemia accompanied by ketosis and acidosis 2. Altered mental status 3. Any patient receiving insulin who is unable to tolerate sufficient oral intake to prevent hypoglycemia and dehydration 4. Pediatric patients with newly diagnosed diabetes requiring initiation of insulin therapy if intensive education is not immediately available on an outpatient basis

Answer 147

1. Normal electrolytes and hydration status 2. Ability to tolerate oral intake It is not necessary to obtain perfect glucose control before discharge; insulin doses will require adjustments after discharge and on an ongoing basis 3. For a patient being discharged on insulin therapy, it is necessary to ensure that the family has been educated regarding the following: 1. Definition and pathophysiology of the different types of diabetes 2. Insulin action 3. Signs and symptoms of hypoglycemia 4. Treatment of hypoglycemia and use of glucagon Proper technique in using the glucometer 5. Proper technique in drawing up and administering insulin 6. Consequences of poor glycemic control 7. Follow-up should be arranged with a pediatric endocrinologist as an outpatient

Answer 148

1. Type 1 diabetes are at increased risk for other autoimmune disorders such as hypothyroidism and celiac disease. 2. Type 2 diabetes are at increased risk for non-alcoholic steatohepatitis and dyslipidemia.

Answer 149

1. Decreases TBG clearance leading to higher levels of total thyroid hormone. 2. Oral contraceptive pill use or pregnancy will lead to elevated total T4 levels, but the free amount of thyroid hormone remains normal.

Answer 150

1. An acute surge in TSH occurs in response to exposure to the cold extrauterine environment, resulting in a rise in T4 and T3 levels. 2. TSH remains elevated for 3 to 5 days after birth while the T4 and T3 levels gradually decline over the first 2 to 4 weeks of life.

Answer 151

There is a progressive decrease in TSH and thyroid hormone levels until approximately age 15 to 16 years, when adult levels are reached

Answer 152

1. One of the leading causes of preventable intellectual disability.

Answer 153

``` Clinical manifestations are often subtle and usually not present at birth due to placental transfer of maternal thyroid hormone protects the developing fetus 1. Lethargy 2. Difficulty feeding 3. Constipation 4. A hoarse cry 5. Prolonged jaundice 6. A wide posterior fontanel 7. Macroglossia 8. Coarse facies 9. Umbilical hernia 10. Hypotonia. Due to newborn screening, infants are usually identified before they develop clinical signs or symptoms of hypothyroidism. ```

Answer 154

Hashimoto thyroiditis or autoimmune hypothyroidism

Answer 155

1. Neck swelling 2. Fatigue 3. Constipation 4. Cold intolerance 5. Menstrual irregularities in pubertal girls 6. Goiter (symmetric and nontender) 70% to 80% 7. Bradycardia 8. Proximal muscle weakness 9. Delayed deep tendon reflexes 10. Growth failure 11. Poor linear growth with preservation of normal weight gain (may be relatively overweight for their height) 12. Female predominance 13. Positive family history of autoimmune thyroid disease. (40%-50%) 14. Associated with other autoimmune disorders 15. More common in certain chromosomal disorders such as Down and Turner

Answer 156

Rare disorder caused by transplacental passage of TSH receptor-stimulating antibodies from a mother with Graves disease, leading to increased thyroid hormone production in the fetus.

Answer 157

Until the maternal antibodies are cleared from the infant’s circulation, which can take up to 3 to 4 months.

Answer 158

Clinical symptoms in the neonate are variable and may not occur until several days after birth due to antithyroid medications taken by the mother during pregnancy. Neonates may present with 1. Irritability 2. Tachycardia 3. Jaundice 4. Poor weight gain 5. Exophthalmos Affected infants need to be admitted to NICU for close monitoring of vital signs and frequent testing of thyroid labs resulting in: 1. High-output cardiac failure 2. Death. A pediatric endocrinologist should be consulted immediately Untreated infants that survive may develop 1. Advanced bone age 2. Craniosynostosis 3. Intellectual disability.

Answer 159

Graves disease (autoimmune hyperthyroidism)

Answer 160

Female predominance peaking in adolescence

Answer 161

An autoimmune disorder in which antibodies against the TSH receptor (also known as thyroid-stimulating immunoglobulins) cause the overproduction and secretion of thyroid hormone.

Answer 162

``` Often insidious and the rarity of the disorder and its nonspecific symptoms often result in a delay in diagnosis. 1. Fatigue 2. Weight loss 3. Palpitations 4. Increased bowel movements 5. Irritability 6. Difficulty sleeping. 7. Deteriorating school performance 8. Decreased concentration. 9. Thyroid is generally diffusely enlarged 10. Tachycardia 11. Hypertension 12. Hyperreflexia 13. A fine tremor. Ophthalmopathy (thyroid eye disease) is less common than in adults. ```

Answer 163

Thyroid storm - acute hyperthermia, tachycardia, and encephalopathy in a patient with hyperthyroidism. Heart failure can result from the tachycardia. Thyroid storm may be precipitated by infection, surgery, or noncompliance with antithyroid medications.

Answer 164

An inherent defect of the thyroid gland or thyroid hormone production or secretion Primarily caused by caused by thyroid gland dysgenesis.

Answer 165

Due to defects in the pituitary/hypothalamus.

Answer 166

Rare 1. Can be caused antithyroid medications taken by the mother during pregnancy that cross the placenta, inhibiting fetal thyroid hormone production. Usually resolves in 1-2 weeks 2. Iodine deficiency or excess in the mother 3. Pre- or postnatal exposure to iodine 4. Maternal TSH receptor-blocking antibodies that cross the placenta and block thyroid hormone production in the fetus/neonate.

Answer 167

1. Radiation to the neck (used in the treatment of certain types of lymphoma) 2. Surgical resection of the thyroid gland for treatment of Graves disease or thyroid cancer. 3. Certain medications

Answer 168

1. Dopamine (Down-regulate the release of TSH from the pituitary) 2. Glucocorticoids (Down-regulate the release of TSH from the pituitary) (Appear to inhibit the peripheral conversion of T4 to T3) 3. Amiodarone (Affect thyroid hormone synthesis and release) (Contains iodine) 4. Iodine (Affect thyroid hormone synthesis and release) (Large amounts can block the release of preformed thyroid hormone and the synthesis of new hormone (the Wolff–Chaikoff effect) (Large amounts of cutaneous iodine for surgical procedures risk factor) 5. Lithium (Affect thyroid hormone synthesis and release) (Inhibits thyroid hormone release) 6. Antiepileptic medications (phenytoin and carbamazepine) (Increase hepatic metabolism of thyroxine resulting in low levels of total T4 with normal TSH and T3 levels).

Answer 169

1. Hydrocephalus 2. Hemorrhage 3. Brain tumor 4. Meningitis 5. Central nervous system malformations.

Answer 170

Newborn screening (measurement of T4 or TSH (or both) Screening with TSH has a higher false-positive rate owing to the early screening (before 2 days of life) and it also misses infants with central hypothyroidism. Screening T4 can miss subclinical hypothyroidism (normal T4 but elevated TSH levels). If newborn screen positive: Thyroid function testing should include TSH and free T4 or total T4 combined with a measure of binding proteins, such as a T3 resin uptake. A technetium scan can establish whether there is any thyroid tissue or an ectopic or hypoplastic thyroid.

Answer 171

1. A serum TSH with a total and free T4. 2. Antithyroid peroxidase and antithyroglobulin antibodies for autoimmune hypothyroidism. 3. Imaging only with nodule present 4. MRI of the brain and pituitary to rule out a mass if acquired central hypothyroidism.

Answer 172

1. Low TSH and elevated T4 and T3 levels are consistent with primary hyperthyroidism. 2. Measurements of thyroid-stimulating immunoglobulins and TSH receptor antibodies should be obtained to confirm the diagnosis of Graves disease. 3. An I-123 scan may be necessary to distinguish Hashimoto thyroiditis from Graves, given overlap in the antibody profiles. 4. Thyroid US with presence of nodule

Answer 173

Goal: adequately replace thyroid hormone as early as possible to maximize the chances for normal neurologic development. Levothyroxine (T4) 1. Starting dose is generally 10 to 15 μg/kg (usually 37.5–50 μg/day) in one daily dose (Higher dose has had better neurologic outcomes) 2. Crushed tablet in a small amount of formula, breast milk, or water. 3. Avoid liquid and suspensions because they are unreliable 4. Overtreatment leads to advanced bone age and craniosynostosis 5. Late diagnosis at about 2-3 months of age - work up to a full replacement dose over 1 to 2 weeks to avoid precipitating rapid mobilization of fluid. Clinical and biochemical monitoring at 2 to 4 weeks following levothyroxine initiation Every 1 to 2 months during the first 6 months of life Every 3 to 4 months between 6 months and 3 years old Then every 6 to 12 months until completion of growth.

Answer 174

1. Levothyroxine dosed based on age and weight 2. Iron, calcium supplements, and soy products decrease the absorption of levothyroxine and should be administered at a different time. 3. Higher dose if given with meals 4. The goal of treatment is to keep the TSH and T4 within the normal range. 5. Elevated TSH and T4 levels in a patient treated for primary hypothyroidism should raise the suspicion for noncompliance with a recent effort to conceal their noncompliance by taking multiple doses at one time. 6. T4 is monitored in patients with central hypothyroidism.

Answer 175

1. Treatment for neonatal thyrotoxicosis should be initiated ASAP due to risk of cardiac failure and death, 2. Methimazole and propylthiouracil (PTU) block the production of thyroid hormone. 3. Methimazole (0.5–1 mg/kg/day) is now the first-line agent for treatment of neonatal hyperthyroidism 4. PTU (5 to 10 mg/kg/day) also blocks conversion of T4 to T3 and is available in a liquid preparation. *Risk for severe liver failure 5. PTU may need to be used if a compounded suspension of methimazole cannot be obtained. 6. Propranolol (1–2 mg/kg/day) should be administered to treat tachycardia. 7. In severe cases, a saturated potassium iodide solution (SSKI 1 drop/day) or Lugol iodide solution (1–3 drops/day) may be used to decrease thyroid hormone production. 8. Frequent monitoring of thyroid levels is essential. 9. Medications and propranolol can be weaned and are typically discontinued after 3 to 4 months once the TSI is no longer detectable.

Answer 176

1 Methimazole (0.5 to 1 mg/kg/day or 15–20 mg/day). (Severe side effects include agranulocytosis, hepatitis, and Stevens–Johnson syndrome) 2. Use of propylthiouracil (PTU) (5 to 10 mg/kg/day) is now generally avoided due to the association with liver failure. 3. May take a number of weeks until circulating thyroid hormone levels begin to decrease. 4. A beta-blocker such as propranolol (1–2 mg/kg/day) or atenolol (0.5–1.2 mg/kg/day) may be added to control tachycardia and improve symptoms while the antithyroid medications take effect. 5. Thyroid levels, including TSH, T4, and T3, should be checked 4 to 6 weeks after starting therapy, then every 2 to 3 months once on a stable dose. 6. Definitive therapy if remission is not achieved within 12 to 24 months or sooner if methimazole cannot be tolerated. 7. Definitive therapy is radioiodine ablation or surgical removal of the thyroid gland. 8. Radioiodine ablation is a safe and effective treatment in children, with long-term studies showing no evidence of decreased fertility or increase rates of malignancy. 9. Thyroidectomy is generally recommended for younger children (< 10 years), those with large glands, or those with severe eye disease.

Answer 177

1. Propranolol (2 to 3 mg/kg per day, divided every 6 hours) to control the tachycardia 2. Dexamethasone (1 to 2 mg every 6 hours) to reduce conversion of T4 to T3 3. Intravenous sodium iodide (125 to 250 mg/day) or Lugol solution (concentrated iodide; 5 drops by mouth every 8 hours) to decrease the release of thyroid hormone from the thyroid gland. 4. Methimazole (0.6 to 0.7 mg/kg per day) or PTU (6 to 10 mg/kg per day; maximum 200 to 300 mg/day) should be started, although the effect will not be seen for several days.

Answer 178

1. Neonatal thyrotoxicosis 2. Thyroid storm 3. Congenital hypothyroidism or severe hypothyroidism in an older child if there is any suspicion that the family is not administering the medication properly

Answer 179

1. Resolution of acute symptoms of neonatal thyrotoxicosis or thyroid storm and improving thyroid function tests on medication. 2. For any child with thyroid disease, the family must understand proper dosing and administration of medication, and thyroid function tests should be improving.

Answer 180

1. Growth and development 2. Thermogenesis 3. Oxygen consumption 4. The metabolism of carbohydrates, lipids, and proteins.

Answer 181

Produced in the hypothalamus and stimulates the production and secretion of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.

Answer 182

Through binding of the thyroid-stimulating hormone receptor (TSHR), TSH leads to production and release of the thyroid hormones, thyroxine (T4) and triiodothyroxine (T3), as well as thyroid cell growth.

Answer 183

Regulates endocrine target organs, such as the adrenal gland, ovary, testis, and thyroid gland.

Answer 184

Abnormalities in end-organ hormone release caused by pituitary dysfunction

Answer 185

Abnormalities caused by a hypothalamic abnormality

Answer 186

Failure of growth and failure of sexual maturation

Answer 187

Secretes releasing factors that travel via the portal circulation to the anterior pituitary gland and include growth-hormone releasing hormone (GHRH), thyrotropin-releasing hormone (TRH), corticotropin-releasing hormone (CRH), and gonadotropin releasing hormone (GnRH).

Answer 188

These factors stimulate or inhibit release of the six peptide hormones produced by the five distinct cell types of the anterior pituitary gland: growth hormone (GH) from somatotropes, prolactin by lactotropes, thyroid-stimulating hormone (TSH) from the thyrotropes, adrenocorticotropic hormone (ACTH) via corticotropes, and follicle-stimulating hormone (FSH) and luteinizing hormone (LH), secreted by gonadotropes.

Answer 189

Releases arginine vasopressin, also known as antidiuretic hormone (ADH), and oxytocin.

Answer 190

In the paraventricular and supraoptic nuclei of the hypothalamus. For this reason, diabetes insipidus (DI) can occur with hypothalamic disease, but may not always occur with pituitary disease, even if the stalk has been transected (depending on the level of transection).

Answer 191

1. Congenital malformations involving the midline of the central nervous system (CNS) are associated with pituitary deficiencies. 2. Midline defects elsewhere may alert clinicians to screen for pituitary deficiency (i.e. single central incisor, cleft lip and palate, tracheo-esophageal fistula, omphalocele and gastroschisis, and extrophy of the bladder). 3. Septo-optic-dysplasia, with optic nerve hypoplasia 4. Holoprosencephaly and absence of the septum pellucidum.

Answer 192

1. A small or absent anterior pituitary gland 2. An absent or ectopic posterior pituitary “bright spot” 3. A transected pituitary stalk.

Answer 193

1. Hypoglycemia (due to GH and/or ACTH deficiency) 2. Micropenis (combination of GH and gonadotropin deficiency) 3. Hyperbilirubinemia

Answer 194

1. Poor linear growth (GH deficiency) 2. Fatigue and malaise (TSH and ACTH deficiency) 3. Delayed pubertal development 4. Amenorrhea or sexual dysfunction (LH and FSH deficiency) 5. Hypotension or hypoglycemia (ACTH deficiency). 6. Inability to regulate temperature, appetite, thirst, and vital signs may be seen in hypothalamic dysfunction. 7. Indirect signs of central nervous system lesions, including headaches, vision changes, and other neurological disturbances, may be seen.

Answer 195

(Craniopharyngioma and less commonly, germinoma and astrocytoma) 1. Growth failure 2. DI 3. Visual complaints (Hypothalamic hamartomas and pineal tumors) 4. Precocious pubertal development during childhood.

Answer 196

Observing low thyroid hormone (T4) with low or inappropriately normal TSH levels (distinguished from primary hypothyroidism in which TSH is elevated).

Answer 197

2 to 4 weeks of life

Answer 198

Levels greater than 20 ng/mL

Answer 199

stimulation tests must be performed. Commonly used secretagogues include arginine, clonidine, and glucagon; insulin-induced hypoglycemia was considered a gold standard but is rarely used due to safety concerns.

Answer 200

Made in the first 6 months for males and before 2 to 3 years of life for females, when the gonadotropin axis is active by measuring random LH and FSH. Otherwise diagnosis is generally left until pubertal age.

Answer 201

By observing ACTH and cortisol rise after administration of CRH (1 ug/kg intravenously). Samples for ACTH and cortisol are drawn at baseline and 30, 45, 60, and 120 min after CRH. - Normal: Basal ACTH increases 2- to 4-fold after CRH; peak cortisol >19 μg/dL - Secondary adrenal insufficiency: Basal ACTH <10 pg/mL, no response to CRH; peak cortisol <19 μg/dL - Tertiary adrenal insufficiency: Basal ACTH <10 pg/mL, response to CRH (60-min >10 pg/mL, 120-min >20 pg/mL

Answer 202

By observing ACTH and cortisol rise after administration of CRH (1 ug/kg intravenously). A low dose of ACTH (1 μg) with cortisol levels at 0, 30, and 60 minutes Peak cortisol levels of <19 μg/dL are consistent with adrenal insufficiency.

Answer 203

Consists of replacement of the pituitary or target gland hormone.

Answer 204

Subcutaneous growth hormone

Answer 205

Testosterone or estrogen (usually during puberty, though testosterone may be given in neonates to correct micropenis)

Answer 206

Maintenance doses of hydrocortisone may be used, though some have sufficient function to not require daily steroid supplementation

Answer 207

Should be undertaken prior to thyroid hormone replacement, as this may precipitate adrenal crisis 1. All patients with adrenal insufficiency must be treated during times of stress with high doses of glucocorticoid. 2. Oral hydrocortisone 25 to 50 mg/m2 every 8 hours given for mild to moderate stress such as fever, emesis, infection, or a minor procedure. 3. Intravenous or intramuscular hydrocortisone 100 mg/m2 given once for severe stress including shock or major surgery; 100 mg/m2 should then be given intravenously over 24 hours divided q4 hours. 4. The stress dose should be continued until the patient is recovered from inciting illness, and daily dosage immediately resumed.

Answer 208

An inability to concentrate urine despite increasing serum osmolality as a result of inadequate secretion of ADH (central DI) or unresponsiveness of the kidney to ADH (nephrogenic DI).

Answer 209

1. Excessive drinking (polydipsia) 2. Excessive urine output (polyuria) 3. Dehydration 4. Hypernatremia

Answer 210

Water deprivation test to confirm that urinary osmolality remains inappropriately low during a period when serum osmolality has increased to an abnormally high level. 1. Test is usually begun in the morning after free access to fluids overnight. 2. Patient is NPO with no access to enteral or parenteral fluids. 3. Monitor vital signs hourly. 4. Monitor weight hourly. 5. Monitor urine output hourly. 6. Monitor serum and urine osmolality and serum sodium every 2 hours.

Answer 211

1. Body weight decreases by 3% from baseline. 2. Significant orthostatic blood pressure and/or pulse changes are observed. 3. Urine osmolality >600 mOsm/kg, suggesting normal ADH secretion and response. 4. Urine osmolality reaches a plateau (i.e. less than 10% change over three consecutive measurements). 5. Serum osmolality > 300 mOsm/kg H2O and/or the serum sodium is >145 mmol/L.

Answer 212

With DI, urine osmolality will not rise above 600 mOsm/kg despite high serum osmolality or hypernatremia. Plasma ADH level should be sent at the end of the test to help distinguish central DI (low/absent ADH) from nephrogenic DI (normal levels). Once ADH level is sent, administer desmopressin (1 mg) subcutaneously and continue following urine osmolality and volume for an additional 2 hours. After 2 hours of administering DDAVP, a rise in urine osmolality over (often 50% above baseline) confers a diagnosis of central diabetes insipidus, whereas a rise of less than 10% above baseline confers a diagnosis of nephrogenic diabetes insipidus.

Answer 213

Method 1: Give maintenance intravenous fluids as normal saline (NS) or ½NS. Replace urine output in excess of 4 mL/kg/hr with D5W or D5/¼NS, depending on the serum sodium level. Method 2: Give intravenous fluids for insensible loss of 400 to 600 mL/m2/day as NS or ½NS. Replace all urine output with D5W or D5/¼NS, depending on the serum sodium level. (Serum glucose needs to be monitored closely with both methods because patients may become hyperglycemic, which can worsen the polyuria. For glucose levels higher than 250 mg/dL, an insulin drip may be required (starting dose, 0.03 U/kg/hr).

Answer 214

Treatment with ADH can be initiated if serum sodium is greater than 145 mEq/L and serum osmolality is greater than 195 mOsm. The dose should be titrated according to the patient’s response to the initial dose. The most flexible regimen is an aqueous pitressin drip. Its extremely short half-life enables rapid changes in dose.

Answer 215

1. Aqueous pitressin is manufactured as 20 U = 1 mL. 2. Add 0.1 mL to 20 mL NS, and then add 5 mL of that solution to 500 mL NS so that 1 mL = 1 mU aqueous pitressin. 3. The usual starting dose is 0.10 mU/kg/hr. The dose can be adjusted every 30 minutes until the desired trend in serum sodium is noted. Doses higher than 0.8 mU/kg/hr are not likely to increase the antidiuretic effect.

Answer 216

Half-life of 3 to 6 hours. The suggested starting dose is 0.05 to 0.1 U/kg per dose subcutaneously (SC) Examples: - 1 U SC every 4 to 6 hours for infants - 2.5 U SC every 4 to 6 hours for toddlers - 5 U SC every 4 to 6 hours for children - Maximum of 10 U SC every 4 to 6 hours for adults.

Answer 217

Half-life of 6 to 12 hours (or longer). The suggested starting dose is 0.01 to 0.03 μg/kg per dose intravenously (IV) or SC daily or twice daily Examples: - 0.05 mL SC or IV every 12 hours for infants - 0.1 mL SC or IV every 12 hours for toddlers - 0.15 mL SC or IV every 12 hours for children - Up to 0.5 mL SC or IV every 12 hours for adults

Answer 218

Half-life of 6 to 24 hours. 1. Nasal dose of 5 to 20 μg/day (0.05 to 0.2 mL) divided twice daily or daily as needed 2. 1 spray = 10 μg or 0.1 mL = 10 μg 3. The nasal dose is 10 times the parenteral dose in micrograms

Answer 219

Dose of 0.025 to 0.4 mg orally every 8 to 24 hours

Answer 220

Avoid hyponatremia, which can exacerbate posttraumatic cerebral edema.

Answer 221

1. Uncommon cause of hyponatremia in the inpatient setting. 2. Hyponatremia with decreased urine output develops 3. The patient needs to be euvolemic or hypervolemic for the secretion of ADH to be considered “inappropriate.”

Answer 222

The presence of CNS disease or pulmonary disease

Answer 223

Decreased urine output and low serum sodium. Typically, in isolated SIADH, the serum sodium and osmolality are low, the urine sodium is above 40 meq/L, and the urine osmolality is above 100 mOsm/kg. Findings should include the absence of edema or dehydration on physical examination, and there should be evidence of intravascular volume expansion (low blood urea nitrogen, low hematocrit, low uric acid) on laboratory evaluation.

Answer 224

1. Restriction of fluid to 400 to 600 mL/m2/day (40% of maintenance) or less (not <25% of daily maintenance) 2. Strict input and output; monitor urine specific gravity 3. Frequent measurement of serum sodium levels 4. If acute life-threatening symptoms are present or if the development of hyponatremia is acute and the sodium level is less than 120 mEq/L with symptoms of neurologic deterioration or brain swelling: - Replace urine Na and K losses with 3% saline and appropriate amounts of K. - Give 0.5 to 1 mg/kg furosemide by intravenous push, followed by hourly determinations of urine Na and K. 5. If necessary, hypertonic (3%) saline can be used to raise serum sodium to 125 mEq/L (3% saline = 0.5 mEq Na/mL; must be given slowly) by using the following formula: (125 − Present serum Na) × 0.6 (Na space) × Wt (kg) Examples: - If you wish to raise serum Na by 10 mEq 10 × 0.6 = 6 mEq/kg = 12 mL 3% saline/kg - If you wish to raise serum Na by 5 mEq 5 × 0.6 = 3 mEq/kg = 6 mL 3% saline/kg

Answer 225

1. Electrolyte imbalance 2. Altered sensorium 3. Vasomotor instability

Answer 226

1. Input and output can be monitored at home, a caregiver can administer medication as needed, and the patient is clinically stable. 2. Regular follow-up for monitoring of serum electrolytes and the underlying disease is arranged.

Answer 227

Responsible for producing two kinds of signaling molecules: 1. Steroid hormones, produced in the outer adrenal cortex 2. Catecholamines, generated in the adrenal medulla.

Answer 228

1. Mineralocorticoid (aldosterone) - produced by cells in the outermost zona glomerulosa 2. Glucocorticoid (cortisol) - produced by cells in the middle zona fasciculata 3. Androgen (dehydroepiandrosterone [DHEA] and dehydroepiandrosterone-sulfate [DHEA-S]) classes - produced by cells in the innermost zona reticularis produces DHEA and DHEA-S.

Answer 229

1. Stabilize cardiopulmonary function 2. Correct metabolic derangements 3. Avoid intake and/or endogenous production of potentially toxic substances

Answer 230

1. Acidosis 2. Hypoglycemia 3. Hyperammonemia (pretreatment)

Answer 231

1. Usually caused by single gene defects that result in abnormalities in protein, carbohydrate, fat, or complex molecule metabolism. 2. Most are due to a defect in, or deficiency of, an enzyme, enzyme cofactor, or transport protein that results in a block in a metabolic pathway. 3. Clinical effects are the consequence of toxic accumulations of substrates before the block or intermediates from alternative metabolic pathways and/or defects in energy production and utilization due to deficiency of products beyond the block

Answer 232

1. Organic acidemia 2. Urea cycle defect 3. Disorder of carbohydrate utilization or production, 4. Fatty acid oxidation defect 5. Mitochondrial disorder 6. Peroxisomal disorder

Answer 233

Disorders of protein metabolism (i.e., aminoacidopathies, organic acidemias, urea cycle defects), carbohydrate intolerance, and lysosomal storage

Answer 234

Disorders of glycogenolysis and gluconeogenesis, fatty acid oxidation defects, and mitochondrial disorders

Answer 235

1. Organic acidemias | 2. Urea cycle defects

Answer 236

1. Disorders of carbohydrate intolerance | 2. Mitochondrial disorders.

Answer 237

1. Organic acidemias 2. Urea cycle defects 3. Fatty acid oxidation defects 4. Certain disorders of carbohydrate intolerance

Answer 238

1. Screening too soon after birth (especially within the first 24 hours) 2. Prematurity 3. Neonatal illness 4. Medications 5. Transfusions 6. Inadequate samples 7. Inappropriate sample handling

Answer 239

1. Aminoacidopathies 2. Organic acidemias 3. Urea cycle defects 4. Galactosemia 5. Hereditary fructose intolerance

Answer 240

1. Poor feeding 2. Vomiting 3. Diarrhea 4. Dehydration 5. Temperature instability 6. Tachypnea or apnea 7. Cyanosis 8. Respiratory failure 9. Bradycardia 10. Poor perfusion 11. Hiccups 12. Jaundice 13. Hepatomegaly 14. Pseudoobstruction 15. Irritability 16. Lethargy 17. Coma 18. Seizures 19. Involuntary movements (e.g., tremors, myoclonic jerks, boxing, pedaling) 20. Posturing (e.g., opisthotonus) 21. Abnormal tone (e.g., hypertonia or central hypotonia).

Answer 241

1. Galactosemia is the classic example. 2. Organic acidemias 3. Glycogen storage disorders

Answer 242

A history of deterioration after an initial period of apparent good health ranging from hours to weeks

Answer 243

1. Onset of symptoms occurs after there has been significant accumulation of toxic metabolites following the initiation of feeding. 2. Onset of symptoms is usually between 2 and 5 days of life. 3. Initial symptoms often are poor feeding, vomiting, irritability, and lethargy. 4. Jaundice occurs most commonly with tyrosinemia, galactosemia, and hereditary fructose intolerance. 5. Progression to coma, multisystem organ failure, and death is usually rapid

Answer 244

1. Tyrosinemia 2. Galactosemia 3. Hereditary fructose intolerance

Answer 245

Most commonly: 1. Partial deficiency of the urea cycle enzyme ornithine transcarbamylase 2. Fatty acid oxidation defects 3. Disorders of carbohydrate intolerance 4. Disorders of gluconeogenesis and glycogenolysis

Answer 246

Typically present during infancy: 1. Recurrent episodes of vomiting and lethargy 2. Ataxia 3. Seizures 4. Coma

Answer 247

Usually with progressive neurologic deterioration.

Answer 248

1. Lysosomal storage disorders 2. Mitochondrial disorders 3. Peroxisomal disorders

Answer 249

1. Failure to thrive 2. Chronic dermatoses 3. Dilated or hypertrophic cardiomyopathy 4. Liver dysfunction 5. Hepatomegaly 6. Pancreatitis 7. Musculoskeletal weakness 8. Hypotonia and/or cramping 9 Impairments of hearing and vision 10. Developmental delay, sometimes with loss of milestones

Answer 250

1. Most commonly fatty acid oxidation defects that cause cardiac arrest due to arrhythmia and/or cardiomyopathy: - The most common of these is medium-chain fatty acyl-coA dehydrogenase deficiency. 2. Other fatty acid oxidation defects, organic acidemias, and congenital adrenal hyperplasia account for most of the remainder of SIDS cases attributable to genetic defects.

Answer 251

1. Mild to profound developmental delay 2. Autism 3. Learning disabilities

Answer 252

Partial ornithine transcarbamylase deficiency

Answer 253

Particularly following protein ingestion in adolescent females with a history of: 1. Protein aversion 2. Migraine-like headaches 3. Vomiting 4. Abdominal pain 5. Lethargy 6. Behavioral problems

Answer 254

1. Sudden death 2. Life-threatening cardiac arrhythmia 3. Hypoketotic hypoglycemia 4. Rhabdomyolysis.

Answer 255

Usually in adolescents because of their greater participation in sports: 1. Exercise intolerance 2. Muscle weakness 3. Cramping 4. Rhabdomyolysis

Answer 256

During adolescence or adulthood: 1. Loss of vision and/or hearing 2. Cardiac dysfunction 3. Myopathy 4. Neurologic degeneration 5. Endocrine disturbances

Answer 257

1. Serum electrolytes, Blood gas, Lactate that detect: - Electrolyte imbalances, An increased anion gap and/or Acid–base status abnormalities 2. BUN and creatinine levels that reveal: - Impaired renal function 3. Total and direct bilirubin, aspartate transaminase (AST) and alanine transaminase (ALT) transaminases, prothrombin time (PT), partial thromboplastin time (PTT), and/or ammonia that indicate: - Hepatic dysfunction or failure 4. Hypoglycemia, particularly with low or absent urine ketones, that suggests: - Inability to appropriately metabolize fatty acids or carbohydrates 5. Urine-reducing substances that suggest: - Carbohydrate intolerance

Answer 258

Serum glucose level of less than 40 mg per dL

Answer 259

Serum glucose level of less than 50 mg per dL

Answer 260

1. High-pitched cry 2. Hypothermia 3. Cyanosis 4. Poor feeding 5. Decreased level of consciousness 6. Irritability 7. Seizures

Answer 261

1. Headache 2. Blurred vision 3. Repeated yawning 4. Diaphoresis 5. Pallor 6. Nervousness

Answer 262

1. Vomiting | 2. Tachypnea

Answer 263

1. Low pH 2. Low PCO2 3. Low bicarbonate

Answer 264

An elevated anion gap acidosis (greater than 16 mmol per L)

Answer 265

1. Early: anorexia and irritability 2. Children and adolescents may report headache, abdominal pain, and fatigue. 3. Progression to vomiting, lethargy, seizures, coma, and death may occur within hours

Answer 266

1. Brainstem dysfunction 2. Cerebral edema 3. Intracranial hemorrhage.

Answer 267

less than 100 μg per dL in neonates and less than 80 μg per dL beyond the neonatal period

Answer 268

Somatic (arising from skin, bone, joint, muscle, and connective tissue) or visceral (arising from internal organs).

Answer 269

Arising from skin, bone, joint, muscle, and connective tissue

Answer 270

Arising from internal organs

Answer 271

Pain due to nerve damage and in pediatric patients is more commonly related to trauma (e.g., localized nerve or spinal cord injury), surgery (e.g., post amputation), and chemotherapy (e.g., peripheral neuropathy)

Answer 272

1. Refers to abnormal presence of, or inappropriate activation of, abnormal pain pathways within the nervous system. (fibromyalgia, irritable bowel syndrome) 2. Pain circuits may rewire themselves and produce spontaneous nerve stimulation.

Answer 273

Short-lived and occurs with injury or near injury to the tissue due to an adverse chemical, thermal, or mechanical stimulus

Answer 274

Nociceptive, neuropathic, or functional; it is defined as pain lasting greater than 1 month

Answer 275

A state of apprehension that develops in response to stress and includes behavioral, emotional, and physiologic responses.

Answer 276

An exaggerated state involving excessive, often nonpurposeful motor activity. Nonpurposeful activity is associated with physiological responses that may be accompanied by anxiety, panic, depression, delusions, hallucinations, or delirium.

Answer 277

1. Transduction 2. Transmission 3. Modulation 4. Perception.

Answer 278

Transduction refers to the pain initiation phase during which, noxious stimuli activate free nerve endings known as primary afferent nociceptors at the site of tissue damage and transmit these impulses to the spinal cord

Answer 279

1. A-delta: thinly myelinated, rapidly conducting fibers that are primarily responsible for sensations characterized as sharp, stabbing, well-localized pain with a high threshold for firing in response to mechanical or thermal stimuli that once activated, they dramatically increase their rate of firing as the stimulus intensity increases. 2. C fibers: unmyelinated fibers that respond to noxious mechanical, thermal, and chemical stimuli; conduct impulses at a slower rate; and tend to induce pain more characterized as dull, aching, and poorly localized

Answer 280

A variety of substances that stimulate or sensitize nociceptors: 1. Bradykinins 2. Serotonin 3. Histamine 4. Potassium ions 5. Norepinephrine 6. Prostaglandins 7. Leukotrienes 8. Substance P.

Answer 281

The use of presurgical regional nerve blocks and analgesics: A-delta and C fiber nociceptors have the property of sensitization, which results in the receptors becoming more sensitive and more reactive with repeated stimuli. resulting in a decreased pain threshold and an enhanced response to subsequent painful stimuli

Answer 282

Causes the release of phospholipids and other substances from the cell’s lipid membrane into the intracellular space. The release of phospholipids initiates the arachidonic acid cascade. The arachidonic acid cascade activates 5-lipo-oxygenase and cyclo-oxygenase (COX), resulting in the synthesis of leukotrienes and prostaglandins. Leukotrienes and prostaglandins sensitize the nociceptors so that they may be activated by weaker stimuli that normally would not induce pain signals. (Inhibition of leukotriene and prostaglandin synthesis may improve pain control when tissue damage is known or suspected.)

Answer 283

By decrease the synthesis of leukotrienes, thereby decreasing pain, swelling, and edema in the peripheral tissues. Several NSAIDs also appear to be potent inhibitors of prostaglandin synthesis. Those that are more lipophilic (e.g., ibuprofen) penetrate better in the central nervous system (CNS) and inhibit synthesis of both peripheral and central prostaglandins, whereas acetaminophen only blocks prostaglandin synthesis in the CNS.

Answer 284

the second process of nociception, comprises the propagation of the impulses through the sensory nervous system by primary afferent neurons that synapse in the dorsal horn of the spinal cord and then ascend to the brain stem, thalamus, limbic system, and areas in the cerebral cortex. Although multiple pathways are assumed to affect the pain signals, THE DORSAL HORN OF THE SPINAL CORD is the primary coordinating site and is largely affected by descending stimulating and inhibitory signals from the brain.

Answer 285

The third step in the nociception process and refers to the alteration of pain sensation by endogenous mechanisms. Modulation may result in attenuation or amplification (“wind-up”) of the pain intensity and duration. (the slow, prolonged depolarization and hyperexcitability by the dorsal horn neurons seen with repeated painful stimulation) The most important site where these effects occur is THE DORSAL HORN OF THE SPINAL CORD

Answer 286

This mechanism is thought to be partly due to the slow response of NMDA receptors and the sustained release of substance P. Several neuronal changes occur during this hyperexcitability state: 1. Subsequent painful stimuli evoke a longer and intense period of action potential firing leading to hyperalgesia (increased pain sensitivity to damaged tissues). 2. The size of the receptive fields increases, leading to a secondary hyperalgesia (increased pain sensitivity to surrounding tissues). 3. The threshold for firing action potentials is lowered, resulting in allodynia (pain in response to normally minimally painful stimuli). This propensity for increased and prolonged pain as a result of this mechanism is a rationale for early treatment and ensuring that pain is well controlled.

Answer 287

Between interneurons and by pathways of descending inhibition originating in the thalamus and brain stem, which inhibit synaptic pain transmission at the dorsal horn of the spinal cord. Neurons within these pathways release inhibitory neurotransmitters, including norepinephrine, serotonin, gamma-aminobutyric acid (GABA), glycine, and enkephalin. The inhibitory neurotransmitters then block the release of substance P, glutamine, and other excitatory neurotransmitters.

Answer 288

1. Opioids mimic this descending pain inhibitory system by binding to endorphin receptors throughout the CNS. 2. Alpha 2 agonists (e.g., clonidine, dexmedetomidine) act both before and after synapses at alpha 2 receptors in the dorsal horns of the spinal cord to hyperpolarize cell membranes and inhibit generation of the action potential.

Answer 289

Another mechanism responsible for modulating pain impulses: This system consists of neurotransmitters such as enkephalins, dynorphins, and beta-endorphins that are found throughout the CNS and bind to specific opioid receptors.

Answer 290

Mu, delta, and kappa, each of which have their own subtypes. All three receptors induce membrane hyperpolarization, which inhibits generation of an action potential, thereby modulating the transmission of pain impulses.

Answer 291

The final step: the brain processes the nociceptive input as perceived pain. Pain is perceived as a multidimensional sensory and emotional experience to which the body mounts both physical and behavioral responses. Expression of pain is clearly different in pediatric patients when compared with adults and is affected by a number of factors, including developmental age and medical condition. In nonverbal children, the HCP must rely on the pediatric patient’s behavioral and physiological responses and information provided by the caregiver on the child’s usual response to pain.

Answer 292

1. Tachycardia, 2. Hyperventilation 3. Hypertension 4. Diaphoresis 5. Dydriasis 6. Increased myocardial oxygen consumption. 7. Inadequate ventilation, resulting in hypoxia and stimulation of neuroendocrine responses, causing the release of corticosteroids, growth hormone, and catecholamines, plus decreased insulin secretion. 8. These responses produce hyperglycemia and a breakdown in carbohydrates and fat stores, which may lead to metabolic acidosis from an increase in blood levels of lactate, pyruvate, ketone bodies, and fatty acids.

Answer 293

1. Avoidance behaviors 2. Interrupted sleep patterns 3. Irritability 4. Outbursts of anger 5. Depression up to 1-year post discharge in children following pediatric intensive care unit (PICU) hospitalization 6. Posttraumatic stress disorder (PTSD) 7. Acute stress disorder (ASD) in hospitalized children with injury-related traumatic events and illness-related traumatic events

Answer 294

Include three main categories of symptoms: (1) patient re-experiences the traumatic event (e.g., nightmares) (2) the patient shows avoidance behaviors toward trauma-related stimuli (e.g., avoids conversations, people, or places) (3) the patient experiences a heightened arousal state (e.g., sleep disturbances). Symptoms must be present for at least 1 month for diagnosis of PTSD. Some reported predictors for PTSD include uncontrolled pain, parental stress, preexisting psychiatric disorders, and previous hospitalizations

Answer 295

1. Neonates have delayed maturation of the cytochrome P450 hepatic enzyme system involved in drug metabolism, resulting in a reduced clearance of drugs, particularly opioids and amino-amide local anesthetics. In general, maturation of these enzyme functions occurs by 6 months of age. 2. The relatively higher body water content in neonates and infants results in a larger volume of distribution of water-soluble drugs and the potential for a longer duration of medication action. 3. The relatively smaller fat and muscle stores in neonates result in higher plasma concentrations of drugs because fewer active sites for drug binding or uptake are available; this factor leads to increased risk of toxicity and adverse effects. 4. Protein binding of drugs is reduced in neonates compared with older children because of lower plasma levels of albumin; this factor may cause a greater medication effect or increased plasma free drug concentration. 5. Renal excretion of medications depends on renal blood flow, glomerular filtration rate, and tubular secretory function, all of which are decreased in infants. These variations may require adjustments in drug dosages and intervals to prevent adverse effects. 6. Neonates have decreased ventilatory responses to hypoxemia and hypercarbia. These ventilatory responses can be further impaired by CNS depressant medications such as opioids and benzodiazepines.

Answer 296

pediatric above 6 years

Answer 297

1. Faces 2. Legs 3. Activity 4. Cry 5. Consolability (2 months - 7 years, children younger than 16 years, cognitively impaired, critically ill)

Answer 298

1. A sedation scale used to assess critically ill children receiving invasive and noninvasive respiratory support. 2. The tool includes six dimensions: alertness, calmness, respiratory response, movement, muscle tone, and facial expression 3. Each dimension is scored 1 through 5, with total scores ranging from 6 to 30. Scores less than 11 demonstrate over sedation, scores between 11 and 22 show adequate sedation, and scores greater than 22 show under sedation. 4. The tool has demonstrated reliability and validity in children 0 to 10 years of age

Answer 299

1. Measures sedation in pediatric patients supported by mechanical ventilation 2. The tool comprises seven dimensions on the sedation to agitation continuum, with scores ranging from − 3 (unresponsive) to +2 (agitated). 3. Mechanically ventilated children aged 2 weeks to 17 years

Answer 300

1. Developed to assess level of sedation or agitation with scoring range of +4 (combative) to − 5 (unarousable) in critically ill adult patients 2. However, the RASS is commonly used to assess level of sedation in critically ill children and during procedural sedation in spontaneously breathing children, but to date it has only been validated in a single center pediatric study

Answer 301

1. Developed to assess the depth of sedation during procedural sedation in children 0 to 17 years of age 2. Scores range from 0 (awake) to 5 (unarousable). 3. The tool has been validated in two single center pediatric studies totaling 491 patients

Answer 302

1. Comfort B | 2. SBS

Answer 303

1. Midazolam | 2. Lorazepam

Answer 304

1. CNS depressant 2. Hypnotic 2. Sedative

Answer 305

1. Sedation 2. Anxiolysis 3. Respiratory synchrony

Answer 306

``` Onset of action: IV: 1-5 min PO: 10-20 min IM: 5 min IN: 5.5 +/- 2.2 min ```

Answer 307

IV: 20-30 min IM: 2-6 hr IN: 23 min

Answer 308

IV: 2.9 - 4.5 hr PO: 2.2 - 6.8 hr

Answer 309

1. Cardiac arrest 2. Hypotension 3. Bradycardia 4. Concurrent opioid usage can cause respiratory depression/arrest, profound sedation, coma, death

Answer 310

Dose titration to effect is an important consideration because patients with hepatic and renal insufficiency or failure may require lower dosage because of the medication’s active metabolite

Answer 311

1. CNS depressant 2. Hypnotic 3. Sedative

Answer 312

1. Sedation | 2. Anxiolysis

Answer 313

IV: 2-3 min IM: 20-30 min

Answer 314

8-12 hours

Answer 315

1. Concurrent opioid usage can cause respiratory depression/arrest, profound sedation, coma, death 2. Hypotension 3. Apnea bradycardia 4. Cardiac failure 5. Parenteral formulation mixed with polyethylene glycol can result in toxicity (kidney failure, lactic acidosis, osmolar gap) with high dose/long term therapy

Answer 316

Long half life disallows continuous infusions

Answer 317

1. Risk for delirium 2. Use the minimum effective dose is warranted to potentially limit the risk of delirium and the associated impact in this vulnerable group of children.

Answer 318

1. CNS depressant 2. Hypnotic 2. Sedative

Answer 319

1. Sedation | 2. Anxiolysis

Answer 320

IV: 1-5 min PR: 2-10 min

Answer 321

60-120 min

Answer 322

1. Concurrent opioid usage can cause respiratory depression/arrest, profound sedation, coma, death 2. Rapid IV push may cause sudden hypotension/respiratory depression 3. Apnea 4. Bradypnea 5. Cardiac Arrest 6. Use with cause in neonate/children if containing benzoic acid, benzyl alcohol, and sodium benzoate

Metabolic/Pain Flashcards

(350 cards)