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Flashcards in peds13 Deck (100):
1

transient hyperammonemia of the newborn

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

2

most common urea cycle defect

OTC def

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how is OTC def inheritied

x-linked recessive and therefore males more severely affected

4

clinical features

vomitting and lethargy; begins at onset of protein ingestion

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dx of OTC def

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

6

management of OTC def

low-protein diet; liver transplant may be necessary

7

galactosemia

glactose-1-phosphate uridyltransferase def

8

galactosemia should be suspected when

any newborn with hepatomegaly and hypoglycemia

9

clinical features of galactosemia

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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dx of galactosemia

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

11

management of galactosemia

galactose free diet

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prognosis of galactosemia

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

13

hereditary fructose intolerance

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

14

symptoms of hereditary fructose intolerance

severe hypoglycemia, vomitting, diarrhea, FTT, and seizures

15

management of hereditary fructose intolerance

avoidance of fructose, sucrose, and sorbitol

16

organomegaly and metabolic acidososi

think glycogen storage diseae

17

vonGierke's disease (GSD type 1)

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

18

management of GSD type 1

frequent feeding with complex carb diet

19

risk of GSD type 1

patients at incr risk for hepatocellular carcinoma

20

pompe's disease (GSD type 2)

alpha glucosidase def; muscular weakness and cardiomegaly, hepatomegaly

21

when do FAO def present?

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

22

clinical features of FAO def

non-ketotic hypoglycemia; hyperamonemia; myopathy and cardiomyopathy

23

most common FAO defect

medium chain acyl-coA dehydrogenase def

24

dx of medium chain acyl-coA dehyd def

mass spectrometry to detect elevated amts of medium chain fatty acids

25

management of FAO def

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

26

when should mitochondrial dz be suspected?

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

27

Kearns-sayre syndrom

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

28

MELAS

mitochondrial encephalopathy lactic acidosis, and strokelike episodes

29

dx of mitochondrial diseases

tissue biopsy revealing abnormal mitochondria

30

examples of lysosomal storage diseases

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

31

tay sachs

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

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diff between infantile onset and juvenile or adult onset tay sachs

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

33

dx of tay sachs

decreased hexosaminidase A activity in leukocytes or fibroblasts

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prognosis of infantile tay sachs

death by 4 years

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prognosis of juvenile or adult onset tay sachs

degeneration into a chronic debilitiated state

36

gaucher's disease

glucocerebrosidase def; most common gangliosidosis

37

features of gaucher's disease

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

38

Neimann-pick disease

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

39

metachomatic leukodystrophy

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

40

what are mucopolysaccharidoses

lysosomal storage disorders in which glucoseaminoglycans accumulate in multiple organs

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dysostosis multiplex

bony abnormalities seen in mucopolysaccharidoses

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Hurler syndrome

most severe mucopolysaccharidosis

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clinical features of Hurler syndrome

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

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management of hurler syndrome

early bone marrow transplant to prevent neurodegen

45

prognosis of hurler's

death by 10-15 yo

46

dx of hurler's syndrome

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

47

Hunter syndrome

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

48

features of hunters syndrome

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

49

diagnosis for hunter

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

50

prognosis for hunters

patients die by age 20

51

examples of mucopolysacchidoses

hurler, hunter, sanfillipo, morquio

52

sanfilipo syndrome

rapid and severe mental and motir retardation

53

morquio syndrome

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

54

porphyrias

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

55

clinical features of porphyrias

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

56

dx of porphyrias

increased seryn and urine porphobilinogen

57

management of porphyria

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

58

wilson's disease

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

59

when do clinical features of wilsons disease develop?

between 2 and 50 yo

60

what are the clinical features of wilson's disease

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

61

dx of wilsons

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

62

management of wilsons

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

63

menkes kinky hair disease

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

64

clinical features of menkes kinky hair disease

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

65

dx of menkes kinky hair

typical hair findings and low serum cerulopasmin and copper

66

definition of short stature

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

67

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

genetic short stature

68

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

2 inches per year

69

targeted mid parental height

most kids are within 4 inches of MPH

70

hypopituitarism

hx of hypoglycemia, prolonged jaundice, cryptochordism, or microphlallus

71

calculating MPH

5 inches between m and d

72

normal U/L at birth

1.7

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normal U/L at 3 yo

1.3

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normal U/L greater than 7 yo

1

75

short fourth metacarpal

turners syndroe

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constitutional short stature

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

pathologic short stature

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

78

causes of prenatal onset proportionate short stature

environmental exposure, infection, genertic syndromes, chrom disorders

79

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

rickets, some form of skeletal dysplasia

80

rickets characteristics

frontal bossing, bow legged, low serum phosphorous

81

test for GH?

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

82

what radiographic studies help in assessing pathologic short stature?

bone age film and skull radiographs to look at pituitary

83

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

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

84

bone age = chron age in what 4 causes

familial short stature, IUGR, Turner syndrome, skeletal dysplasia

85

endocrinopathies that cause short stature

GH def, hypothyroidism, hypercortisolism, turner syndrome

86

results of GH stimulation test in patients with GH def?

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

87

management of GH def

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

88

most common cause of hypothyroidism

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

89

most common cause of hypercortisolism

iatrogenic as a result of prolonged steroids

90

sign of hypercortisolism

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

91

does GH help in turners

yes

92

def of precocious puberty in girls

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

93

def of precocious puberty in boys

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

94

classic presentation for premature thelarche?

in the first 2 years of life; no tx

95

classic presentaiton of premature adrenarch

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

96

Isosexual precocious puberty

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

97

most common cause of precious puberty in girls

idiopathic

98

most common cuase of precocious puberty in boys

organic, all cases need evaluation by MRI of the head

99

hypothyroidism

precocious puberty, poor growth, and delayed bone age

100

HPG stim test

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