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Peds > peds13 > Flashcards

peds13 Flashcards

1
Q

transient hyperammonemia of the newborn

A

self-limited; may present in premature infants in the first few days of life; aggressive treatment is required to prevent neurologic sequelae

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2
Q

most common urea cycle defect

A

OTC def

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3
Q

how is OTC def inheritied

A

x-linked recessive and therefore males more severely affected

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4
Q

clinical features

A

vomitting and lethargy; begins at onset of protein ingestion

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5
Q

dx of OTC def

A

elevated urine orotic acid, decr serum citrulline, and increased ornithine; also liver biopsy

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6
Q

management of OTC def

A

low-protein diet; liver transplant may be necessary

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7
Q

galactosemia

A

glactose-1-phosphate uridyltransferase def

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8
Q

galactosemia should be suspected when

A

any newborn with hepatomegaly and hypoglycemia

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9
Q

clinical features of galactosemia

A

begins after newborn feeds a cow’s milk based formula or breastfeeds for the first time; vomitting, diarrhea, and FTT; hepatic dysfunction and hepatomegaly; cataracts, RTA

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10
Q

dx of galactosemia

A

non-glucose reducing substance in urine tested by Clinitest; confirmation fo enzyme def in RBCs; prenatal and newborn screenign are available

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11
Q

management of galactosemia

A

galactose free diet

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12
Q

prognosis of galactosemia

A

good, with normal intelligence if the disorder is treated earl; mental retard if detected late; ovarian failure in females; E coli sepsis in early infancy

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13
Q

hereditary fructose intolerance

A

fructose-1-phosphate aldolase B def; begins after intro of fruit

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14
Q

symptoms of hereditary fructose intolerance

A

severe hypoglycemia, vomitting, diarrhea, FTT, and seizures

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15
Q

management of hereditary fructose intolerance

A

avoidance of fructose, sucrose, and sorbitol

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16
Q

organomegaly and metabolic acidososi

A

think glycogen storage diseae

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17
Q

vonGierke’s disease (GSD type 1)

A

G6Pase def;hypoglycemia, hepatomegaly; metabolic acidosis, hypertriglyceridemia, and enlarged kidneys

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18
Q

management of GSD type 1

A

frequent feeding with complex carb diet

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19
Q

risk of GSD type 1

A

patients at incr risk for hepatocellular carcinoma

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20
Q

pompe’s disease (GSD type 2)

A

alpha glucosidase def; muscular weakness and cardiomegaly, hepatomegaly

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21
Q

when do FAO def present?

A

during acute illness or fasting, when Fas would be used as energy

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22
Q

clinical features of FAO def

A

non-ketotic hypoglycemia; hyperamonemia; myopathy and cardiomyopathy

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23
Q

most common FAO defect

A

medium chain acyl-coA dehydrogenase def

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24
Q

dx of medium chain acyl-coA dehyd def

A

mass spectrometry to detect elevated amts of medium chain fatty acids

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25
Q

management of FAO def

A

freq feeding with high carb, low-fat diet and carnitine supplementation during acute episodes

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26
Q

when should mitochondrial dz be suspected?

A

when a common disease has an atypical presentation or if a disease involves 3 or more organ systems

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27
Q

Kearns-sayre syndrom

A

mitochondrial disorder; opthalmoplegia, retina pigment issues, hearin gloss, heart block, and neurodegen

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28
Q

MELAS

A

mitochondrial encephalopathy lactic acidosis, and strokelike episodes

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29
Q

dx of mitochondrial diseases

A

tissue biopsy revealing abnormal mitochondria

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30
Q

examples of lysosomal storage diseases

A

tay sachs, gauchers, niemann-pick, metachromatic leukodystrophy, hurler, hunter, sanfilippo, morquio

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31
Q

tay sachs

A

hexosaminidase A def; hyperacusis (incr sens to sound); macrocephaly, cherry-red macula; severe developmental delay, blindness, seizures

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32
Q

diff between infantile onset and juvenile or adult onset tay sachs

A

infant begins before age 2; juvenile does not have cherry-red macula

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33
Q

dx of tay sachs

A

decreased hexosaminidase A activity in leukocytes or fibroblasts

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34
Q

prognosis of infantile tay sachs

A

death by 4 years

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35
Q

prognosis of juvenile or adult onset tay sachs

A

degeneration into a chronic debilitiated state

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36
Q

gaucher’s disease

A

glucocerebrosidase def; most common gangliosidosis

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37
Q

features of gaucher’s disease

A

erlenmeyer flask shape to the distal femur; mortality by 4 yo; enzyme replacement therapy is management

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38
Q

Neimann-pick disease

A

sphingomyelinase def; progressive neurodegen, ataxia, seizures, cherry-red macula, hepatomegaly; death by 4 yo

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39
Q

metachomatic leukodystrophy

A

neurodegen; caused by arylsulfatase A def; ataxia, seizures, progressive mental retard; death by 10-20 yo

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40
Q

what are mucopolysaccharidoses

A

lysosomal storage disorders in which glucoseaminoglycans accumulate in multiple organs

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41
Q

dysostosis multiplex

A

bony abnormalities seen in mucopolysaccharidoses

42
Q

Hurler syndrome

A

most severe mucopolysaccharidosis

43
Q

clinical features of Hurler syndrome

A

developmental delay, kyphosis; progressively coarsened facial features; corneal clouding

44
Q

management of hurler syndrome

A

early bone marrow transplant to prevent neurodegen

45
Q

prognosis of hurler’s

A

death by 10-15 yo

46
Q

dx of hurler’s syndrome

A

dermatan and heparin sulfates in the urine and decrease alpa L iduronidase enzyme activitiy in leukocytes and fibroblasts

47
Q

Hunter syndrome

A

x-linked recessive; corneal clouding absent even though it is a mucopolysaccharidosis

48
Q

features of hunters syndrome

A

hepatosplenomegaly, hearing loss, “a hunter needs sharp eyes” so no corneal clouding

49
Q

diagnosis for hunter

A

same as for hurler; dermatan and heparin sulfates in the urine and decrease alpha L iduronidase enzyme activity in leukocytes and fibroblasts

50
Q

prognosis for hunters

A

patients die by age 20

51
Q

examples of mucopolysacchidoses

A

hurler, hunter, sanfillipo, morquio

52
Q

sanfilipo syndrome

A

rapid and severe mental and motir retardation

53
Q

morquio syndrome

A

differs from other mucopolysaccharoidosis in that mental retard is absent; severe scoliosis leading to cor pulmonale results in death by 40 yo

54
Q

porphyrias

A

defects in heme pigment biosynthesis; leads to elevated serm porphyrins, which leads to skin photosensitivity, neuro and abdominal symptoms

55
Q

clinical features of porphyrias

A

episodic and precipitated by drugs, hormonal surgses, or poor nutirition; neuro, GI (colicky abdom pain), autonomic instability (tachy, sweating)

56
Q

dx of porphyrias

A

increased seryn and urine porphobilinogen

57
Q

management of porphyria

A

IV glucose, correction of electrolyte abnormalities, and avoidance of fasting and precipitating drugs

58
Q

wilson’s disease

A

defect in copper excretion; causes copper deposition initially in the liver, then followed by brain, eyes and heart

59
Q

when do clinical features of wilsons disease develop?

A

between 2 and 50 yo

60
Q

what are the clinical features of wilson’s disease

A

kayser-fleisher rings in the peripheral cornea; neuro findings, hepatic dysfuntion

61
Q

dx of wilsons

A

decreased serum cerulopasmin(most common screening test); also elevated serum and urine copper; copper deposit in hepatocytes on liver bx

62
Q

management of wilsons

A

avoid copper food (nuts, liver, chocolate); chelation therapy; liver transplant in severe cases

63
Q

menkes kinky hair disease

A

x-linked recessive; caused by abnormal copper transport; low serum copper

64
Q

clinical features of menkes kinky hair disease

A

seizures, pale kinky friable hair, optic nerve atrophy, severe mental retard, early death

65
Q

dx of menkes kinky hair

A

typical hair findings and low serum cerulopasmin and copper

66
Q

definition of short stature

A

height that is 2 SDs below the mean (below the third percentile)

67
Q

downward shif in the height percentile in the first 2 years of life

A

genetic short stature

68
Q

children who grow how much between 3 yo and puberty generally do not have an endocrinopathy or underlying pathologic disorder

A

2 inches per year

69
Q

targeted mid parental height

A

most kids are within 4 inches of MPH

70
Q

hypopituitarism

A

hx of hypoglycemia, prolonged jaundice, cryptochordism, or microphlallus

71
Q

calculating MPH

A

5 inches between m and d

72
Q

normal U/L at birth

A

1.7

73
Q

normal U/L at 3 yo

A

1.3

74
Q

normal U/L greater than 7 yo

A

1

75
Q

short fourth metacarpal

A

turners syndroe

76
Q

constitutional short stature

A

height at least 2 SDs below the mean with a history of delayed puberty in either or oth parents, a delayed bone age and late onset of puberty, and a min growth of 2 inches per year

77
Q

pathologic short stature

A

height more than 3 SDs below the mean and growth of less than 2 inches per year

78
Q

causes of prenatal onset proportionate short stature

A

environmental exposure, infection, genertic syndromes, chrom disorders

79
Q

causes of diproportionate short stature (upper body greater than lower body)

A

rickets, some form of skeletal dysplasia

80
Q

rickets characteristics

A

frontal bossing, bow legged, low serum phosphorous

81
Q

test for GH?

A

IGF-1; random GH should not be measured, most is released during stage four REM

82
Q

what radiographic studies help in assessing pathologic short stature?

A

bone age film and skull radiographs to look at pituitary

83
Q

bone age < chron age (bones aren’t developing like the rest of you)- what five causes

A

constitutional short stature, hypothyroidism, hypercortisolism, GH def, chronic disease

84
Q

bone age = chron age in what 4 causes

A

familial short stature, IUGR, Turner syndrome, skeletal dysplasia

85
Q

endocrinopathies that cause short stature

A

GH def, hypothyroidism, hypercortisolism, turner syndrome

86
Q

results of GH stimulation test in patients with GH def?

A

stimulation with L-dopa-Inderal, glucagon, or clonidine gives a poor response

87
Q

management of GH def

A

daily subq injections of recombinant GH until 13-14 in girls or 15-16 in boys

88
Q

most common cause of hypothyroidism

A

hashimotos (incr TSH, low T4, pos antithyroid peroxidase antibodies)

89
Q

most common cause of hypercortisolism

A

iatrogenic as a result of prolonged steroids

90
Q

sign of hypercortisolism

A

purple stretch marks, fat bad on neck, decr bone age, weight gain

91
Q

does GH help in turners

A

yes

92
Q

def of precocious puberty in girls

A

presence of breast development or pubic hair before age 7 or menarches before age 9

93
Q

def of precocious puberty in boys

A

presence of testicular changes, penile enlargmetns or pubic or axillary hair before age 9

94
Q

classic presentation for premature thelarche?

A

in the first 2 years of life; no tx

95
Q

classic presentaiton of premature adrenarch

A

happens after 5 yo; more common in girls; no treatment

96
Q

Isosexual precocious puberty

A

aka central precocious puberty; the hypothalamus is activated earier than usual;

97
Q

most common cause of precious puberty in girls

A

idiopathic

98
Q

most common cuase of precocious puberty in boys

A

organic, all cases need evaluation by MRI of the head

99
Q

hypothyroidism

A

precocious puberty, poor growth, and delayed bone age

100
Q

HPG stim test

A

pos means central precocious puberty (the HPG axis is turned on!)

Peds (99 decks)

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