GI

Question 1

Deficiency of the atp-dependent bile acid transporter is associated with

Answer 1

Progressive familial intrahepatic cholestasis type 2

Question 2

GGT levels in progressive familial inter hepatic biliary hypoplasia

Answer 2

Normal

Question 3

The use of PPIs is associated with what long term adverse event

Answer 3

Bone fracture

Question 4

Inheritance of Alagille syndrome

Answer 4

Autosomal dominant

Question 5

Pancreatic insufficiency, bone marrow dysfunction, neutropenia, short stature, diarrhea, normal bicarbonate secretion, normal sweat test

Answer 5

Schwachman-Diamond syndrome

Question 6

What makes up the pentology of Cantrell

Answer 6

Cleft sternum, anterior midline diaphragmatic abnormality, pericardial defect, ectopic cordis, upper abdominal omphalocele

Question 7

What is OEIS complex?

Answer 7

Omphalocele, extrophy of the bladder, imperforate anus, spinal deformity

Question 8

What do you see with idiopathic neonatal hepatitis?

Answer 8

Direct hyperbilirubinemia, multinucleated giant cells, increased alpha-fetoprotein