GI

Question 1

Genetic defect in hereditary pancreatitis

Answer 1

PRSS 1, CFTR, SPINK1, and CTRC

Question 2

Newborn, yet to pass meconium with bilious vomiting, AXR with air fluid levels, contrast enema shows normal caliber rectum, small-caliber sigmoid, and descending colon with abrupt caliber transition at splenic flexure (dz and association)

Answer 2

Small left colon syndrome, associated with maternal diabetes (baby may have hypoglycemia, hypocalcemia, and hypomagnesiuma)

Question 3

Type 1 vs Type 2 autoimmune hepatitis

Answer 3

Both fever, fatigue, RUQ pain, anorexia, jaundice, elevated LFTs, hyperIgG, hepatomegaly. Type 1 = female, 10 to 20 years old, +ANA and +anti-smooth muscle Ab (ASMA), can achieve remission. Type 2 = younger children, more severe, +anti-liver kidney microsomal antibody, unlikely remission