Step 2 - Pediatric Congens

Front 1

What dz:

May be 2/2 Robertsonian translocation

Back 1

Downs

(high risk recurrence)

Front 2

#1 chromo disorder

Back 2

Down's

Front 3

Down's: what heart defects?

Back 3

ASD, VSD

Front 4

Down's: hypo or hyperthyroid?

Back 4

HYPO

Front 5

What dz:

Trisomy 18

Back 5

Edwards

Front 6

What dz:

Mental retard; ROCKER BOTTOM FEET

Back 6

Edwards (18)

Front 7

What dz:

Low ears, micrognathia, clenched hands, prominent occiput; HORSESHOE KIDNEY

Back 7

Edwards (18)

Front 8

Edwards dz: what renal abn?

Back 8

Horseshoe kidney

Front 9

Edwards: when die?

Back 9

<1yo

Front 10

What dz:

Trisomy 13

Back 10

Patau

Front 11

What dz:

Microopthalmia, microcephaly, cleft lip, holoprosenceph, PUNCHED OUT SCALP LESIONS, polydactyly

Back 11

Patau

Front 12

Patau: when die?

Back 12

<1yo

Front 13

What dz:

Extra inactive Barr body

Back 13

Klinefelt XXY

Front 14

Klinefelter XXY: how tx?

Back 14

Admin testosterone --> decrease gynecomastia, improves 2' sex

Front 15

What dz:

No Barr body

Back 15

Turner XO

Front 16

What dz:

#1 etiology 1' amenn

Back 16

Turner XO

(2/2 gonadal dysgenesis)

Front 17

What dz:

Pedi with Ao coarct, biscuspid AV

Back 17

Turner XO

Front 18

Turner: what renal abn?

Back 18

Horseshoe kidney

(sim Edwards)

Front 19

PKU: what 2 etiologies? (what def)

Back 19

Decreased

1. Phenylaline hydroxylase
2. Tetrahydrobiopterin cofactor

Front 20

What dz:

Def phenylalanine hydroxyase

Back 20

PKU

(one of 2 etios)

Front 21

What dz:

Def tetrahydrobiopterin cofactor

Back 21

PKU

(one of 2 etios)

Front 22

What dz:

Tyrosine essential

Back 22

PKU

Front 23

What dz:

Increase phenyl ketones

Back 23

PKU

Front 24

PKU:

-in/decrease phenyl ketones?
-what AA becomes essential?

Back 24

Increase phenyl ketones

TYROSINE essential

(NOT tyramine)

Front 25

What dz:

Blonde-hair, blue-eyed w/eczema & mousy urine

Back 25

PKU

Front 26

PKU: affect risk of HD?

Back 26

Increased HD

Front 27

Mother with PKU: what diet in pre-conception?

Back 27

Low phenylaline, high tyrosine

Front 28

What dz:

Defect FMR (methylation)

Back 28

Fragile X

Front 29

Fragile X: what gene defect? what process impaired?

Back 29

FMR --> defective methylation of X chromo

Front 30

What dz:

Macroorchidism, long face, everted ears, autism

Back 30

Fragile X

Front 31

Fragile X: anticipation?

Back 31

Yes -- triplet repeat FMR (impaired methylation)

Front 32

CF:

How inh?

Back 32

AR

Front 33

CF:

What gene? chromo?

Back 33

CFTR; chromo 7

Front 34

What dz:

FTT; chronic sinopulm dz with pseudomonas & S aureus

Back 34

CF

Front 35

CF: what 2 resp pathogens?

Back 35

Pseudomonas
Staph aureus

Front 36

CF: what GI illness in neonatal period?

Back 36

Meconium ileus

Front 37

What dz:

Neonate with greasy BM, jaundice, rectal prolapse

Back 37

CF

Front 38

CF in infant: which more prominent:

Pulm or GI dz?

Back 38

GI

(pulm child onward)

Front 39

CF: why males infertile?

Back 39

Agenesis of vas deferens

Front 40

Rule out what dz:

Neonate w/unexplained hypoNa

Back 40

CF

Front 41

CF: what # to dx on sweat test:

-<20yo
->20yo

Back 41

<20: >60

>20: >80

Front 42

CF w/u: what test 1st --> 2nd?

Back 42

Genetic screen --> sweat test (gold stand)

Front 43

What dz:

alpha-galactosidase A

Back 43

Fabry

Front 44

What dz:

Ceramide trihexoside

Back 44

Fabry

Front 45

Fabry: how inh?

Back 45

AR

Front 46

Krabbe's: how inh?

Back 46

AR

Front 47

What dz:

Galactosylceramidase

Back 47

Krabbe's

Front 48

What dz:

Galactoside

Back 48

Krabbe's

Front 49

What dz:

Increase galactocebroside in brain

Back 49

Krabbe's

Front 50

What dz:


Optic atrophy, spasticity, early death

Back 50

Krabbe's

Front 51

Gaucher: how inh?

Back 51

AR

Front 52

What dz:

Glucocerebrosidase

Back 52

Gaucher

Front 53

What dz:

Glucocerebroside

Back 53

Gaucher

Front 54

What dz:

CRINKLED PAPER cells

Back 54

Gaucher

Front 55

Gaucher: which type more common? affect lifespan?

Back 55

Type 1 most common; normal lifespan

Front 56

What dz:

SPLENOMEG; anemia, decreased plts

Back 56

Gaucher

Front 57

Niemann-Pick: how inh?

Back 57

AR

Front 58

What dz:

Sphingomyelinase

Back 58

Niemann-Pick

Front 59

Niemann-Pick: enlarge what organ? die what age?

Back 59

liver

die 3yo

Front 60

What dz:

Hexosamindase

Back 60

Tay-Sacchs

Front 61

What dz:

GM2 ganglioside

Back 61

Tay-Sacchs

Front 62

What dz:

Normal until 3-6mo --> cherry red; weak; exagerrated startle

Back 62

Tay-Sacchs

Front 63

Tay-Sacchs: 1:___ Euro Jews is carrier

Back 63

1:30

Front 64

Metachromo leukodystrophy: how inh?

Back 64

AR

Front 65

What dz:

Arylsulftase A

Back 65

Metachromo dystrophy

Front 66

What dz:

Accum sulfatides in brain, kidney, liver

Back 66

Metachromo dystrophy

Front 67

What dz:

alpha-L-iduronidase

Back 67

HURLER

Front 68

How inh:

-Hurler
-Hunter

Back 68

Hurler: AR

Hunter: XR

Front 69

What dz:

Corneal clouding, MR

Back 69

Hurler

(contrast Hunter: no MR; better sight)

Front 70

What dz:

Iduronidate sulftase

Back 70

Hunter

(contrast Hurler: alpha-L-iduronidase)

Front 71

CF: recommend what diet?

Back 71

High cal, high protein

Front 72

What dz:

Admin DNase

Back 72

CF