metabolic

Question 1

Celiac Disease - when does it appear?

Answer 1

Usually apparent at 6-2 years of age

Question 2

Celiac Disease - Cannot tolerate

Answer 2

Cannot tolerate a protein found in wheat, barley, rye, & oats
Inability to digest glutenin and gliadin
Accumulation of amino acid glutamine
Toxic to mucosal cells in intestine

Question 3

Four Characteristics of Celiac Disease (MAVS)

Answer 3

Steatorrhea (fatty, foul, frothy, bulky stools)
General malnutrition
Abdominal distention
Secondary vitamin deficiencies

Question 4

celiac triggers (VSS)

Answer 4

viral infection, after surgery, emotional stress, ingestion of gluten

Question 5

celiac crisis - Acute episodes precipitated by the triggers - what are the symptoms? (think electroytes) - acidosis or alkylosis?

Answer 5

Electrolyte imbalance
Rapid dehydration
Severe acidosis

Question 6

celiac - Diagnostic Evaluation

(I gotta get a celiac test)

Answer 6

Measure fecal fat content
Duodenal biopsy
IgA antiendomysial antibodies
IgA antitissue transglutaminase antibodies
Improvement with removal of gluten in diet

Question 7

Gluten found in

Answer 7

Wheat
Rye
Barley
Oat grains

Question 8

celiac - Studies show what about breastfeeding?

Answer 8

Longer breastfeed
The later the symptoms appear

Question 9

CF - cause

Answer 9

Inherited autosomal recessive trait
Child inherits defective gene from both parents

Question 10

CF - patho - what about sweat?

Answer 10

Increased viscosity of mucous gland secretions
Elevation of sweat electrolytes
Increase in several organic & enzymatic constituents of saliva

Question 11

CF patho

Answer 11

Due to thick mucous secretions
Small passages in pancreas & bronchioles
Become obstructed

Question 12

CF - respiratory - what about the heart?

Answer 12

Reduced O2-carbon dioxide exchange causes
Hypoxia
Hypercapnia
Acidosis
Pulmonary hypertension
Cor pulmonale
Respiratory failure
Death

Question 13

CF - Gastrointestinal tract - diabetes?

Answer 13

Risk of type I diabetes
Due to changes in pancreas & diminished blood supply over time

Question 14

CF - Clinical manifestations : most common symptoms - pancreas, infection, sweat glands

Answer 14

Pancreatic enzyme deficiency due to duct blockage
Progressive chronic obstructive disease associated with infection
Sweat gland dysfunction resulting in increased sodium & chloride sweat concentrations

Question 15

CF = Respiratory Tract - lung sounds? cough?

Answer 15

Wheezing
Dry non-productive cough
Chronic cough
Dyspnea

Question 16

CF = Reproductive Tract

Answer 16

Delayed puberty in females
Fertility inhibited due to highly viscous cervical secretions - which act as a plug
Blocking sperm entry
Increased incidence premature labor & delivery
Low birth weight

Question 17

CF =Reproductive Tract - men

Answer 17

Males are sterile (95%)
Blockage of vas deferens with abnormal secretions
OR by failure of nl development of wolffian duct structures (Vas deferens, epididymis, & seminal vesicles)
That results in decreased sperm production

Question 18

CF = Integumentary System - salt during heat?

Answer 18

Abnormal high sodium and chloride
“salty” kiss
Chloride channel defeat prevents reabsorption of sodium & chloride
Risk for salt loss, dehydration, hypochloremic and hyponatremic alkalosis during hyperthermic conditions
Massive losses through sweat.
Heat, fever
Infants

Question 19

CF = Diagnostic Evaluation - pancreatic enzymes?

Answer 19

General activity
Physical findings
Nutritional status
Chest x-ray
Fails to thrive
Frequent respiratory infections
Sweat chloride test
History of the disease in family
Absence of pancreatic enzymes
Increase in electrolyte concentration of sweat
Chronic pulmonary involvement

Question 20

CF diagnostic - lungs?

Answer 20

Patchy atelectasis & obstructive emphysema
Evidence of abnormal small airway function

Question 21

CF - screening

Answer 21

Newborn screening since 1979
Standard method: detection of abnormal chloride secretion in sweat
Mutation of gene known to cause CF
Infants-immunorecative trypsinogen analysis (IRT) - followed by -
DNA - major gene defect – CFTR mutations

Question 22

CF - Therapeutic Management: Pulmonary

Answer 22

Bronchodilators
Nebulized txs
Flutter mucus clearance device
Facilitates removal of mucous
ThAIRapy vest –high frequency chest wall oscillation
Helps loosen secretions
Forced expiration/huffing with glottis
Lung transplant

Question 23

CF - treatment GI - how to take pancreatic enzymes? and how many?

Answer 23

Replacement of pancreatic enzymes (PE)
Administered with meals & snacks
1-5 caps
PE should be taken within 30 mins. of eating

Question 24

CF = Therapeutic Management:
Pancreatic Enzymes - adjust to how many stools a day?

Answer 24

Capsules can be swallowed whole or sprinkled on a small amount of at beginning of meal
PE adjusted to achieve normal growth & decrease the number of stools to two or three/day

Question 25

CF - Therapeutic Management:
 diet

Answer 25

Diet: well-balanced, high protein, high caloric Need calories because of impaired intestinal absorption Avoid dehydration

Question 26

CF - Therapeutic Management:
GI - what vitamins?

Answer 26

Uptake of fat-soluble vitamins is decreased Water-miscible forms of Vitamins A,D,E,K Multivitamins Prevent osteoporosis GoLYTELY (osmotic solution) (constipation)

Question 27

PKU - caused by an absence of what?

Answer 27

Genetic disease Inherited Autosomal – recessive trait Cause by absence of enzyme Needed to metabolize Essential amino acid Phenylalanine

Question 28

PKU - patho - what about the liver?

Answer 28

Phenylketonuria. An inherited metabolic defect in protein metabolism. In PKU, the liver is unable to convert phenylalanine to tyrosine, resulting in a buildup of phenylalanine in the blood, which eventually passes into the brain, causing mental retardation and other neurological problems.

Question 29

PKU patho - what about urine?

Answer 29

Hepatic enzyme phenylalanine hydroxylase, which controls the conversion of phenylalanine to tyrosine is absent Results in accumulation of phenylalanine in blood stream and urinary excretion of abnormal amounts of its metabolites, the phenyl acids

Question 30

PKU patho - what about body odor and urine?

Answer 30

Results in accumulation Phenylalanine in bloodstream Leading to musty body and & urinary odor (caused by excretion of phenol acids)

Question 31

PKU patho - decrease in what neurotransmitters?

Answer 31

Accumulation of phenylalanine Decreased levels of neurotransmitters dopamine & tryptophan Affect normal development of brain & CNS

Question 32

PKU symptoms

Answer 32

Seizures Mental retardation Hyperactivity Irritability Vomiting Eczema-type rash

Question 33

Decreased levels of tyrosine cause a deficiency of the pigment melanin causing most children with PKU

Answer 33

Blond hair Blue eyes Fair skin Prone to eczema

Question 34

PKU - Child appears normal

Answer 34

SXS develop as level rises IF TX not started immediately IQ can drop 10 points within 1st month Will continue to decline

Question 35

PKU - Clinical Manifestations - stomach? and behavior?

Answer 35

Failure to thrive Frequent vomiting Irritability Hyperactivity Unpredictable Erratic behavior

Question 36

PKU - Older children

Answer 36

Bizarre or schizoid behavior Fright reactions Screaming episodes Head banging Arm biting Disorientation Failure to respond to strong stimuli Catatonia-like positions

Question 37

PKU - Clinical Manifestations - neuro - just one

Answer 37

Many severely retarded children have seizures 80% of untreated persons with PKU have abnormal EEG regardless if seizures occur

Question 38

PKU - Diagnostic Evaluation - how long after birth to do test?

Answer 38

Collect initial specimen Close to discharge Most reliable after ingestion of protein 24 hours of normal feedings (breastmilk/formula) No sooner than 48 hours after birth If positive – do second test

Question 39

PKU - theraputic management - how much phenylalanine?

Answer 39

Restriction of dietary protein Phenylaline cannot be totally eliminated - BECAUSE is a essential amino acid for tissue growth Meet child’s nutritional need for optimum growth Maintain phenylalanine levels within a safe range 2 and 6 mg/dl

Question 40

PKU - Special formulas: - is breastfeeding ok?

Answer 40

Special formulas: Lofenalac or Phenyl-Free-1-infant Modified proteins - hydrolysate Breastfeeding possible under supervision (monitor serum levels)

Question 41

PKU management

Answer 41

Low-phenylalanine diet Begun at birth into adulthood Frequent monitoring of blood phenylalanine & tyrosine levels Monitor intellectual, neurologic, behavioral, & neuropsychologic

Question 42

Dietary Treatment for PKU

Answer 42

Diet for adequate growth and development With very low phenylalanine Low Protein

Question 43

PKU - Prognosis

Answer 43

Early recognition & treatment Improves chances to achieve normal cognitive development High percentage exhibit some degree of intellectual impairment

Question 44

celiac triggers (CPF)

Answer 44

prolonged fasting, pregnancy, childbirth

Question 45

CF - what about pancreas? is bicarbonate high or low?

Answer 45

decrease pancreatic secretion of bicarbonate and chloride in sodium and chloride in salvia and sweat Basis for sweat chloride test Sodium and chloride 5 Xs greater than the controls

Question 46

CF - which nervous system is affected?

Answer 46

Abnormalities in autonomic nervous system function

Question 47

CF - liver

Answer 47

Liver – bilary obstruction & fibrosis Multilobular biliary cirrhosis Gallbladder

Question 48

CF - Salivary glands

Answer 48

dry mouth

Question 49

CF - chest - what does it look like?

Answer 49

Patchy atelectasis Barrel chest Bronchitis Rhinitis Chronic nasal congestion

Question 50

CF - diagnostic - stool? enema?

Answer 50

72 hour - Stool fat Enzyme analysis Barium enema – DX meconium ileus

Question 51

CF - what about their O2 levels?

Answer 51

Cautious with O2 (chronic carbon dioxide retention) “Oxygen Toxicity”