chap 10 dx/tx

Question 1

dx neuroblastoma

Answer 1

increased chatecholamines and urine levels of VMA, HVA

Question 2

tx PKU

Answer 2

diet restriction

Question 3

tx galactosemai

Answer 3

Removal of galactose from the diet in the first 2 years.

Question 4

immune hydrops tx

Answer 4

give RhIg at 28 weeks and within 72 hours of delivery during the first pregnancy or abortion of the first pregnanc

Question 5

tx for fetal hydrops

Answer 5

Phototherapy for the bilirubin or in extreme cases, total exchange transfusion.

Question 6

tx cf

Answer 6

Antimicrobial therapies, panc enz replacement, b/l lung transplant

Question 7

RDS tx

Answer 7

promptness of institution of therapy (admin of surfactant: Poractant alfa, Beractant, Calfactant)
-ventialrot therapy: comps

Question 8

Dx cf

Answer 8

Mostly made off of elevated sweat electrolyte levels, but can also be made off of sinopulmonary dz and GI manifestations, or a screening test.
o Gold std: seq teh gene