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Flashcards in Peds Test and Tx Deck (24):
0

What is the screening test for PKU?

Phe levels in the blood
Guthrie test in urine - coloration test for phe in the urine

1

What should be avoided in PKU.

High protein diet

2

What foods are recommended in PKU?

Cereals, starches, fruits, vegetables, Phe-free milk

3

What is the tx for foreign body in the vagina of a child?

Irrigation with warm water (usually toilet paper)
Removal with calcium alginate swab

4

What is the tx for constipation in children?

Limit cow's milk to less than 24 ounces per day
Increase dietary fiber
Laxative

5

What is the first step to identifying bowel obstruction?

ABXR to rule out pneumoperitoneum that would require immediate surgery

6

What is the next step after an Ab XR to identify a bowel obstruction?

Contrast enema

7

What is the best step in management in a child with exposure to lead?

Measure venous lead level

8

What is tx for lead level less than 44?

Repeat level in a month
No meds

9

What is the tx for lead level between 45-69?

DMSA - oral succimer or inpatient EDTA

10

What is the tx for lead levels over 70?

Chelation therapy: dimercaprol plus EDTA

11

What is the enzyme deficient in Gaucher's?

Glucocerebrosidase

12

What are the sx of Gaucher's?

Hepatomegaly
Anemia
Leukopenia
TCP
AVN
Bone pain
Osteopenia
Erlenmeyer flask deformity of distal femur

13

What is the enzyme deficient in Nieman-picks?

Sphingomyelinase

14

What is the enzyme deficient in Krabbe's?

Galactocerebrocidase

15

What is the enzyme deficient in Tay Sachs?

Hexosaminidase A

16

What are the sx of Krabbe's?

Hyperacusis
Optic atrophy
Spasticity
Seizures
Perineural neuropathy
Death in first 3 years of life

17

What are the sx of Tay Sachs?

Slow loss of motor skills beginning around 3-6 months
Cherry red spot n macula
Hearing loss
Dysphagia
Vision loss

18

What are the sx of Nieman picks?

Cherry red spot
Hepatomegaly
Ab distention/pain
Recurrent pulmonary disease
dysarthria
Ataxia
Dystonia

19

What kind of cells are found in Gaucher's?

Crinkled papa macrophage

20

What is the deficiency in Fabry's?

Alpha galactosidase A leads to buildup of ceramide trihexoside

21

What are the sx of Fabry's disease?

Angiokeratomas
Telangectasia
Renal failure
HTN
Parenthesias/neuropathic pai.
Hypohidrosis
Increased risk if TE

22

Mass with calcifications on CT or US + leukoria

Retinoblastoma

23

What is the gold standard for diagnosing Duchenne's?

Genetic testing