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Flashcards in Chemical Pathology Deck (217):
1

Intracellular anions

Protein and Phosphate

2

Extracellular anions

Cl and HCO3

3

Formula for calculated plasma osmolarity

2(Na+K) + urea + glucose

4

Formula for osmolar gap

Measured osmolarity-calculated osmolarity

5

Anion gap formula

Na + K -Cl -HCO3

6

Causes hypernatremia

Insufficient intake
Water loss relative to Na loss: DI, osmotic diuresis, primary aldosteronism

7

Causes hypokalemia

Cellular uptake: insulin, alkalosis
Increased loss: D&V, fistulae, increased mineralocorts, diuretics, RTA 1 and 2

8

Causes hyperkalemia

Cellular loss: acidosis, severe hemolysis/rhabdomyolysis
Decreased loss: Renal failure, decreased mineralocorts (RTA 4), K+-sparing diuretics

9

Treatment hyperkalemia

Stabilize myocardium with 10mL 10% calcium gluconate
Drive K into cells: salbutamol, insulin +50mL 50% dextrose
Mop up K: calcium resonium, hemofiltration

10

Causes hypocalcemia

Absence parathyroids (parathyroidectomy, DiGeorge), Vit D defic, renal disease

11

Causes hypercalcemia

Primary hyperparathyroidism, myeloma, bony mets, PTHrp, granulomatous disease, vit D intoxication, diuretics, tertiary hyperparathyroidism, milk-alkali syndrome

12

Sxs hypercalcemia

Bones (osteitis fibrosa cystica), stones, moans (fatigue, confusion), and groans (vomiting, constipation, pain)

13

Normal GFR

60-120 mL/min

14

Causes of white cell casts in urine

Pyelonephritis

15

Causes of red cell casts in urine

Glomerulonephritis, severe tubular damage

16

Calcium oxalate stones

75%.
Radio-opaque.
Metabolic/idiopathic

17

Triple phosphate stones

17%
Radio-opaque
May form staghorn calciuli--PROTEUS MIRABILIS

18

Uric acid stones

5%
Radio-lucent
Hyperuricemia (gout, Lesch-Nyhan)

19

Cysteine stones

1%
Semi-opaque
Renal tubular defects, cystinuria

20

Gout
-Type crystals
-Presentation
-Tx for acute and chronic

M>F
Monosodium urate crystals: negatively birefringent
Exquisite pain
Red, hot, swollen joint
1st MTP or big toe (podagra) classic
NSAIDs for acute tx; allopurinol or chronic. Colchicine lowers urate levels

21

Pseudogout

Pyrophosphate crystals-positively birefringent
Self-limiting: 1-3 weeks

22

Dx-Cushings syndrome

Midnight plasma cortisol
Low dose DEXA test
Salivary cortisol
Urinary free cortisol

23

Conn's syndrome

"Hyperfunction of aldosterone-secreting cells#. Increased aldosterone, decreased renin

24

Dx-Addison's

Short synacthen test

25

When does CRP peak?

48 hrs

26

Function ceruloplasmin

Mops up superoxide radicals

27

Ferritin increased in which conditions

Fe overload
Acute inflammation

28

Test for B1 deficiency

RBC transketolase

29

Test for B2 deficiency

RBC glutathione reductase

30

Test for B6 deficiency

RBC AST activation

31

Reactive hypoglycemia/Post-prandial

Hypo following food intake
Post-gastric bypass
Hereditary fructose intolerance
Early diabetes
In insulin-sensitive individuals after exercise or large meal

32

Factitious hypoglycemia

Decreased glucose, increased insulin without increased C-peptide

Think of those with access to insulin...often nurses on exam questions

33

Sulfonylurea's effect on glucose

Causes increased insulin production therefore lowers glucose

34

Essential amino acids

"PVT M.T. HILL"
Phenylalanine
Valine
Threonin
Methionine
Tryptophan
Histidine
Isoleucine
Leucine
Lysine

35

Bariatric surgery procedures

Banding
Sleeve gastrectomy
Roux-en-Y (gold standard)

36

Marasmus

Caloric malnutrition
Severe muscle wasting, no s/c fat, growth retardation

37

Kwashiorkor

PROTEIN malnutrition
Edematous
Scaling/ulceration
Lethargy
Large liver, s/c fat

38

Anterior pituitary hormones

LH
FSH
GH
ACTH
TSH
PRL

39

Posterior pituitary hormones

Stored only

Oxytocin
ADH

40

CPFT triple test

Hypoglycemia should increase CRF and thus ACTH, GHRH and GH
TRH stimulates TSH and PRL
LHRH stimulates LH and FSH

If pituitary failure, failure for GH, cortisol, LH, FSH to respond.
Urgently needs hydrocortisone
Also needs thyroxine, estrogen and GH replacement

41

Tx for PRLoma

Da agonist e.g. bromocriptine or cabergoline

42

Dx Acromegaly

OGTT
Glucose should decrease GH but stays high if acromeg

43

Renal osteodystrophy

All skeletal changes associated with chronic renal disease
-increased bone resorption (osteitis fibrosa cystica)
-Osteomalacia
-Osteosclerosis (can cause deafness or pain by pinching nerves)
-Growth retardation
-Osteoporosis

44

Buffers of H+

HCO3-/H2CO3
Hb-/HHb
HPO4-/H2PO4

45

Location in kidney where bicarb (HCO3) is reabsorbed

Proximal tubule

46

Causes metabolic acidosis

Increased H+ production (e.g. DKA)
Decreased H+ excretion (e.g. renal tubular acidosis)
Bicarb loss (e.g. intestinal fistula)

47

Causes metabolic acidosis with increased anion gap

MUD PILES
Methanol
Uremia
DKA
Propylene glycol
Iron/INH
Lactic acidosis
Ethylene glycol
Salicylates

48

Metabolic Alkalosis Causes

H+ loss (e.g. pyloric stenosis)
Hypokalemia (H+/K+ exchangers)
HCO3 ingestion

49

Normal serum concentration K+

3.5-5mmol/L

50

First ECG sign seen with hyperkalemia

Symmetrical peaked/tented T waves ("Eiffel Tower t waves)

51

ADH receptors

V2 in renal tubular cells (aquaporin channels)
V1 on vascular smooth muscle (vasoconstriction)

52

Tx hypokalemia

If 3-3.5: oral KCl (2 sando-K tablets tds for 48hrs)
If

53

Signs hypovolemia

tachycardia, postural hypotension, dry mucous membranes, reduced skin turgor, confusion/drowsiness, reduced urine output

54

Clinical signs hypervolemia

Increased JVP
Bibasal crackles
Peripheral edema

55

Causes hypovolemic hyponatremia

Diarrhea
Vomiting
Diuretics

56

Causes euvolemic hyponatremia

Hypothyroidism
Adrenal insufficiency
SIADH

57

Causes hypervolemic hyponatremia

Cardiac failure
Cirrhosis
Nephrotic syndrome

58

Causes SIADH

CNS pathology
Lung pathology
Drugs: SSRIs, TCAs, opiates, PPIs, carbamaz
Tumors

59

Dx-SIADH

No hypovolemia, hypothyroidism, adrenal insufficiency
Reduced plasma osmolality and increased urine osmolality

60

Na correction

Do not correct more than 12mmol/L in first 24 hours--risk central pontine myelinolysis

61

Central pontine myelinolysis

Quadriplegia, pseudobulbar palsy, seizures, coma, death

62

Tx-SIADH

Water restriction
Demeclocycline (decreases collecting tubule responsiveness to ADH)
Tolvaptan (V2 antag)

63

PTH-mechanism for increasing calcium

Kidneys: increases Ca reabsorption, upregulates 1-alpha-hydroxylase
Intestine: increases Ca absorption
Bone: increases bone resorption

64

Causes of high calcium and low PTH

Malignancy
Sarcoid
Thyrotoxicosis
Milk alkali syndrome

65

Causes of high calcium and high or inappropriately normal PTH

Primary hyperparathyroidism
Familial hypocalciuric hypercalcemia (rare)

66

Primary hyperparathyroidism

Parathyroid adenoma/hypoplasia/carcinoma
Associated with MEN I

67

Hypercalcemia in malignancy-causes

Humoral calcemia of malignancy (SCC lung secretes PTHrp)
Bone mets
Hematological malignancy (e.g. myeloma)

68

Hypocalcemia causes-NON PTH driven

Vit D deficiency
CKD
PTH resistance (pseudohypoparathyroidism)

69

Causes hypocalcemia due to low PTH

Surgical removal parathyroids
AI hypoparathyroidism
Congenital e.g. DiGeorge
Mg deficiency

70

T score in osteoporosis

71

T score in osteopenia

-1.5 to -2.5

72

Causes osteoporosis

Failure to attain peak bone mass
Early menopause
Bone loss during adulthood: lifestyle, endocrine (hyper-PRLemia, thyrotox, Cushings)
Steroids

73

Tx-osteoporosis

Lifestyle: stop smoking and drinking, weight bearing exercise
Drugs: Vit D/Ca, bisphosphonates, teriparatide, strontium, SERM (raloxifene)

74

Clinical features osteomalacia

Bone and muscle pain
Increased fracture risk
Low Ca and PO4, raised ALP
Looser's zones (pseudofractures)

75

Clinical features rickets

Bowed legs
Costochondral swelling
Widened epiphysis at wrists
Myopathy

76

Paget's disease

Disorder of bone remodeling
Focal pain, warmth, deformity, #, SC compression, malig, high output cardiac failure

Increased ALP
Tx with bisphosphonates

77

Renal osteodystrophy

Due to secondary hyperparathyroidism and retention of aluminum from dialysis fluid

78

Which two types renal stones are radiolucent?

Uric acid
Cysteine

79

Albumin

Maintains oncotic pressure, source of amino acids, acts as buffer, binds ligands
Decreased in acute inflamm response, liver failure, nephrotic syndrome

80

Alpha-1-antitrypsin

Degrades elastase
Deficiency causes tissue degradation (liver, lung)

81

haptoglobin

Mops up free Hb.
Thus decreased in intravascular hemolytic anemias

82

Ceruloplasmin

Carries copper
Decreased in Wilsons

83

Causes increased CSF

Trauma, infection (MENINGITIS), spinal block

84

Causes transudate effusions

Decrease in oncotic pressure:
CCF, liver failure, hypoalbuminemia, peritoneal dialysis

85

Causes exudate effusions

Malignancy
PE
RA/SLE
TB
Hemothorax

86

AFP as tumor marker

HCC
Testicular cancer

87

Tx-hypoglycemia

Alert and orientated: lucozade, sandwich
Drowsy/confused but swallow intact: buccal glucose
Unconsc or unsafe swallow: IV 50mL 50% gluc or 100mL 20% gluc

88

Causes hypoglycemia

Diabetes
Fasting/reactive
BOOZE
Organ failure
Insulinoma
Post-gastric bypass
Drugs
Extreme weight loss
Factitious

89

Neonatal hypoglycemia

Premature
Infant diabetic mother
IUGR/SGA
Inborn errors metabolism

90

Persistent neonatal hypoglycemia, raised FFA, normal ketones

FA oxidation defects
MCADD
GSD type 1 (von Gierke's)
HMG CoA lysase deficiency

91

Inborn errors metabolism with heptaomegaly

Galactosemia
Fructose-1,6-phosphatase deficiency
GSD 1, 3, or 6

92

Prader-Willi

Maternal imprinting; paternal gene deleted/mutated.

93

Angelman Syndrome

Paternal imprinting; maternal gene deleted/mutated.
"Happy puppet syndrome": inappropriate laughter, seizures, ataxia, severe intellectual disability

94

Hypophosphatemic rickets

X-dominant.
Increased PO4 wasting at proximal tubule

95

Mitochondrial myopathies

Rare
Myopathy, lactic acidosis, CNS disease.
Ragged red fibers

96

FAP

Mutation in APC gene on chromo 5

97

Hereditary hemorrhagic telangiectasia

Aka Osler-Weber-Rendu
Telangiectasias, recurrent epistaxis, skin discolorations, AVMs

98

NF1

Cafe-au-lait spots, cutaneous neurofibromas

99

NF2

Bilateral acoustic schwannomas, juvenile cataracts, meningioas, ependymomas

100

Tuberous Sclerosis

Multiorgan system involvement
Benign hamartomas

101

Lab findings in Duchennes

Increased CPK and aldolase

102

Myotonic type I dystrophy

CTG trinucleotide repeat in DMPK gene.
Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmias

103

Dystrophin

Anchors muscle fibers, especially skeletal and cardiac (note that DCM is most common cause death in muscular dystrophy)
Loss of dystrophin causes myonecrosis

104

Tri-nucleotide repeat disorders

Huntingtons
Freidrich ataxia
Myotonic dystrophy
Fragile X

105

Down's: quad screen

Decreased: AFP, estriol
Increased: inhibin A, hCG

106

Decreased PAPP-A

Downs
Edwards
Patau

107

Vit B complex deficiencies-typical symptoms

Dermatitis
Glossitis
Dementia

108

B1

Thiamine, a component of TPP

109

Thiamine pyrophosphate (TPP)

In pyruvate DH (links glycolysis to TCA cycle)
alpha-ketoglutarate DH (TCA cycle)
Transketolase (HMP shunt)
Branched chain ketoacid DH

110

Thiamine deficiency

Impaired glucose breakdown causing ATP depletion worsened by glucose infusion. Highly aerobic tissues (brain, heart) affected first.
Beriberi or Wernicke's

111

Wet beriberi symptoms

High output HF (DCM), edema

112

Dry beriberi symptoms

Polyneuritis, symmetrical muscle wasting

113

B2

Riboflavin. Components of FAD, FMN--cofactors in redox reactions, e.g. succinate DH

114

B2 deficiency

Cheilosis, corneal vascularization

115

B3

Niacin. Part of NAD+, NADP+ (in redox rxns)
*Synth requires B2, B6

116

B3 deficiency

Glossitis. Pellagra when severe.

117

Pellagra symptoms

Diarrhea
Dermatitis
Dementia

118

Causes of pellagra

Hartnup disease (decreased tryptophan)
Malignant carcinoid syndrome
INH (decreases B6 which is required for B3 synth)

119

B5

Pantothenate. Part of CoA and fatty acid synthase
Deficinecy: dermatitis, enteritis, alopecia, adrenal insufficiency

120

B6

=Pyridoxine. Part of pyridoxal phosphate (cofactorin transamination e.g. ALT, AST), carbox reactions, glycogen phosphorylase
Synthesis of cystathionine, heme, niacin, histamine, NTs (5HT, E, NE, Da, GABA)

121

B6 deficiency

Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias (since no heme production)

122

B7

Biotin
Cofcator for carbox enzymes
Deficiency rare (dermatits, enteritis, alopecia)

123

B9

Folic acid
Converted to THF. Important for synth nitrogenous bases, e.g. in RNA, DNA

124

B9 deficiency

Macrocytic, megalobastic anemia, glossitis
Increased homocysteine, normal methylmalonic acid
Seen in alcoholism, pregnancy, drugs (phenytoin, sulfonamides, MTX)

125

B12

Cobalamin
Cofactor for homocyteine methyltransferase, methylmalonyl CoA

126

B12 deficiency

Caused by strict veganism, malabsorption (sprue, enteritis, Diphyllobothrium latum--fish tapeworm), lack intrinsic factor (pernicious anemia, gastric bypass), absnece terminal ileum (Crohn's)

127

Vit C

Fe3+ --> Fe2+
Hydroxylation proline, lysine
In beta hydroxylase (converts Da to NE)

128

D3

Cholecalciferol
Milk, sun

129

D2

Ergocalciferol
Plants

130

Vit E

Protects RBC from free radical damage

131

Vit E deficiency

Hemolytic anemias
Acanthocytosis
Muscle weakness
Posterior column and spinocerebellar tract demyelination

132

Essential fructosuria

AR defect in fructokinase
Fructose in urine and blood
Asymptomatic and benign

133

Fructose intolerance

AR. Deficiency aldolase B
Fructose-1-P accumulates and decreases PO4 which halts glycogenolysis and gluconeogenesis
Symptoms following ingestion fruit, juice, or honey
Symptoms: hypoglycemia, jaundice, cirrhosis, vomiting

134

Galactokinase deficiency

Deficiency galactokinase
AR
Galacitol accumulates
Sxs: galactose in blood, urine. Infantile cataracts. May initially present as failure to track objects or develop social smile

135

Classic galactosemia

AR deficiency galactose-1-P-uridyltransferase
Sxs: FTT, jaundice, hepatomegaly, infantile cataracts, intellectual disability

136

Cystinuria

AR defect renal tubular transporters for cysteine, ornithine, lysine, arginine (COLA).
XS cystine in urine can precipitate cystine stones.
Tx: urinary alkalinization (K citrate, acetazolamide)

137

Homocystinuria

AR defects often affecting cystathionine synthase.
XS homocysteine.
Intell disability, osteoporosis, tall stature, lens subluxation, thrombosis, atherosclerosis

138

Type I glycogen storage disease

Von Gierke's
AR. Deficient glucose-6-phosphatase.
Loads glycogen in liver (hepatomegaly), increased blood lactate

139

Type II glycogen storage disease

Pompe's,
AR deficiency in lysosomal-alpha-1,4-glucosidase (acid maltase)
HEART (cardiomyopathy), liver, muscle.

140

Type III glycogen storage disease

Cori disease.
No debranching enzyme (alpha-1,6-glucosidase)
Milder version of von Gierke's but no increase in lactate

141

Type V glycogen storage disease

McArdle's
Increased glycogen in muscle--can't break down due to lack skeletal muscle glycogen phosphorylase (myophosphorylase)
Also have painful muscle cramps, myoglobinuira after intense exercise, arrhythmias

142

Purines

Adenosine
Guanosine
Inosine

143

Urate

Final product of purine breakdown
Circulates in blood at level close to its solubility

144

Renal urate handling

90% reabsorbed
10% excreted

145

Rate limiting step (and enzyne) in de novo purine synthesis

PRPP to 5-phhosphoribosyl-1 amine
Enzyne: phosphoribosylamidotransferase, with ppat

146

Salvage pathway purine synthesis

Faster method

Hypoxanthine converted (via HGPRT) to INP
Guanine converted (via HGPRT) to GNP

147

Lesch Nyhan

Deficiency in HGPRT ("He's Got Purine Recovery Trouble")
Devel delay by 6/12
Choreiform movements (basal ganglia)
Spasticity
Self-mutilation (85%), esp lip and finger biting
Hyperuricemia/gout
X linked

148

Causes increased urate production (primary)

Lesch-Nyhan
Partial HGRPT deficiency
Glycogen storage diseases
Fructose intolerance
PRPP synthetase overactivity

149

Causes increased urate production (secondary)

Myeloproliferative disorders
Lymphoproliferative disorders
Chronic hemolytic anemia
Severe psoriasis

150

Causes decreased urate excretion

CKD
Down's syndrome
Pb poisoning
Aspirin

151

Gout

Monosodium urate crystals
Negatively birefringent crystals (yellow when parallel, blue when perpendicular)

152

Pseudogout

Calcium pyrophosphate crystals
Positively birefringent (blue when parallel, yellow when perpendicular)

153

Acute gout

Exquisite pain
Affected joint is hot, swollen, tender
1st MTP joint is first site in 50%--involved in 90% overall

Tx with NSAIDs, colchicine, glucocorticoids

154

Chronic gout (tophaceous)

Not that painful

Allopurinol
Drink plenty water
Slow down on the vodka
Probenecid

155

Schmidt's syndrome

Addison's disease AND primary hypothyroidism

156

Test for Addison's

Short synacthen test

157

Cholesterol transport in fasting plasma

VLDL: 13%
LDL: 70%
HDL: 17%

158

Dyslipidemia

Hypercholesterolemia
Hypertriglyceridemia
Mixed hypolipidemia
Hypolipidemia

159

Primary hypercholesterolemia type II

AD mutation LDL receptor, apoB, or PCSK9 genes.

160

Polygenic hypercholesterolemia

Multiple loci incl NP1L1, HMGCR, CYPA1 polymorphisms

161

Familial hyperaalphalipoproteinemia

Some cases associated with CETP deficiency

162

Phytosterolemia

Mutations ABC G5 and G8 (genes that prevent absorption plant sterols...atherosclerosis occurs earlier when mutations are present)

163

PCSK9

Bind LDL receptor and promote its degradation

Gain-of-fn mutations can cause familial hypercholesterolemia
Loss-of-fn mutations associated with low LDL levels

164

Primary hypertriglyceridemia, Familial type I

Lipoprotein lipase or apoC II deficiency

165

Primary hypertriglyceridemia, Familial type IV

Increased synthesis TG

166

Primary hypertriglyceridemia, Familial type V

Sometimes due to apoA V deficiency

167

CVD risk with lipid levels

Inversely related to HDL levels; directly related to LDL levels

168

Statins

Best at decreasing LDL. Slight decrease in TGs and slight increase in HDL

169

Nicotinic acid

Can't really get this any more

170

Fibrates, e.g. gemfibrozil

Not very good at decreasing LDL
Very good at decreasing TGs and decent at increasing HDL

171

Ezetimibe

Blocks cholesterol absorption
Decrease in LDL levels

172

Cholestyramine

Bile acid binding resin
Decrease in LDL

173

Orlistat

Inhibits pancreatic lipase
Steatorrhea

174

Difference between serum osmolality and serum osmolarity

Osmolality: mOsm/kg
Osmolarity: mOsm/L

Often incorrectly used in medical literature.
By the bedside addition of Na, K etc is osmolarity.
Lab tends to use osmolality.
However, there are complex equations to convert between two

175

Controls uptake of iodide into thyroid

TSH

176

Blocks uptake of iodide into thyroid

Perchlorate

177

Thionamides

Block iodination of tyrosine residues

E.g. carbimazole, propylthiouracil

178

Thyroid peroxidase

Converts iodide into iodine

179

Thyroglobulin

Converts iodine to thyroxine

180

Active thyroid hormone

T3

181

Drugs that can cause hypothyroidism

Amiodarone
Lithium

182

Subclinical hypothyroidism

Compensated.
Increased TSH, normal T4
Associated with hypercholesterolemia

183

Pregnancy's affect on thyroid

hCG resembles TSH so can become hyperthyroid

NORMALLY, TSH decreases slightly and T4 increases, but with increased TGB, therefore euthyroid

184

Sick euthyroid

Alteration in pituitary-thyroid axis in non-thyroidal illness
Can be any severe illness.
Low T4 when severe,
High normal TSH, later decreased
Low T3 and reduced T3 action

185

Causes hyperthyroidism

Graves (40-60%)
Toxic multinodular goiter (30-50%)
Single toxic adenoma (5%)

186

High uptake on technetium scan

Graves
Toxic multinodular goiter
Single toxic adenoma

187

Low uptake on technetium scan

Subacute thyroiditis
Post-partum thyroiditis

188

Papillary thyroid carcinoma

Most common type of thyroid cancer (80%)
RFs: exposure to ionizing radiation in childhood
Orphan Annie nuclei, psammoma bodies
Great prognosis

189

Follicular thyroid carcinoma

Surrounded by fibrous capsule
Mets hematogenously spread (NB most carcinomas spread via lymphatics; this one is an exception)
Must differentiate from follicular adenoma (spread through capsule)

190

Medullary thyroid carcinoma

Prolif parafollicular C cells (thus, may get increased calcitonin thus hypocalcemia)
5% thyroid carcinomas

Familial causes due to MEN syndrome (MEN 2A and 2B). Note both MEN 2A and 2B associated with RET oncogene

191

Anaplastic carcinoma

Rock hard thyroid + elderly
Often invades local structures, causing dysphagia or resp compromise
Poor prognosis

192

Subacute (de Quervain's) thyroiditis

Follows viral infection
Tender thyroid with transient hyperthyroidism
Self-limiting. 15% may progress to hypothyroidism

193

Riedel fibrosing thyroiditis

Chronic inflamm with extensive fibrosis of thyroid
Presents as hypothyroidism with "hard as wood" nontender thyroid
Clinically mimics anaplastic carcinoma, but pts younger (40s) and no malignant cells

194

Hashimotos

AI destruction thyroids
HLA-DR5
MCC hypothyroidism in areas where iodine sufficient
Initially may present as hyperthyroidism (follicles damaged)
Anti-thyroglobulin and antithyroid antibodies
Increased risk B-cell (marginal zone) lymphoma

195

Multinodular goiter

Enlarged thyroid with multiple nodules
Relative iodine deficiency
Usually non-toxic (euthyroid)
Rarely, can have regions that become TSH-independent....toxic goiter

196

Cretinism

Hypothyroidism in neonates and infants
Mental retardation, short stature with skeletal abnormalities, coarse facial features, enlarged tongue, umbilical hernia.

Causes:
Maternal hypothyroidism in early pregnancy
Thyroid agenesis
Dyshormonogenic goiter
Iodine deficiency

Guthrie test (heell prick)

197

The actual definition of myxedema

Accumulation of glycosaminoglycans in skin and soft tissue. Results in deepening of voice and large tongue

Seen in hypothyroidism, pretibial myxedema in hyperthyroidism

198

Common problems in low birth weight babies

RDS
Retinopathy of prematurity
Interventricular hemorrhage
PDA
Necrotizing enterocolitis

199

Nephron embryology (basics)

Nephrons start developing from week 6
Start producing urine from week 10

Functional maturity GFR not reached until about 2 years age

200

Why are young kids' kidneys less able to compensate for problems?

Lower reabsorption capabilities (shorter prox tubule)
Slow excretion solute load
Limited amt Na available for H+ exchange
Reduced concentrating ability
Distal tubule relatively unresponsive to aldosterone

201

Hyponatremia in young children

Rare
CAH (21 hydroxylase deficiency)

202

Causes prolonged neonatal jaundice

Prenatal infection/sepsis/hepatitis
Hypothyroidism
Breast milk jaundice
hemolytic disease
G6PD defic
Crigler-Najjar
Biliary atresia, choledoeal cyst

203

Toxicology

Analyzing samples for drugs/poisons and interpreting the significance

204

Forensics

Reports/results used in court

205

Coroner's toxicology

(Section 3 Coroner's Act)
Report following deaths to coroner:
1. Violent
2. Unnatural or sudden
3. Cause of death unknown

206

How does cocaine kill you?

Arrhythmias, acute HF, MI, coronary vasospasm

207

How do amphetamines kill you?

Direct toxic effect on the heart
Also cause hyperthermia, which causes rhabdomyolysis, which causes renal failure

208

Hair for toxicology reports

Blood/serum-drugs typically can't be detected past 12 hrs
Drugs incorporated into hair from blood stream during growth phase
Hair grows about 1cm/mo = tape-recording of drug use
Use gas-chromatography/mass spec

209

Porphyria

Problem in heme synthesis
Often get funny colored urine and cutaneous symptoms

210

Acute porphyrias

AIP
Hereditary coproporphyria
Variegate porphyria

All AD
Only AIP does not have skin lesions

211

Acute Intermittent Porphyria (AIP)

Defective HMB synthase (PBG deaminase)
Abdo pain and vomiting, tachycardia, HTN, seizures, psychosis

212

Hereditary coprophyria

Defective coporphyrinogen oxidase
AD
Skin lesions

213

Variegate porphyria

Defective protoporphyrinogen oxidase
AD
Skin lesions

214

Non-acute porphyrias

Porphyria cutanea tarda (PCT)
Erythropoietic protoporphyria
Congenital erythropoietic porphyria

215

Porphyria cutanea tarda

Defective uroporpyrinogen decarboxylase
Skin lesions after sun exposure

216

Erythropoietc protoporphyria

Defective ferrochelatase
Skin lesions after sun exposure

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Congenital erythropoietic porphyria

Defective uroporphyrinogen III synthase
Skin lesions after sun exposure