GI

Question 1

Bilirubin syndomes

Answer 1

C - C as for Crigler-Najjar and Catching. Can’t catch bilirubin - unconjugated hyperbilirubinemia. (rare)

G - G stands for Gilberts syndrome and Grabbing. Can’t grab bilirubin - uncjonjugated bilirubienamia. (mutation in conjugating enzyme in 5 - 10% of population)

D - D is Dubin Johnson and Dumping. You can’t Dump conjugated bilirubin from hepatocytes to bile ducts - conjugated hyperbilirubinemia.

R - and finally R is for Rotor syndrome. This is Rotating. You can’t dump bilirubin to the bile, but you can conjugate It and Rotate It which leads to conjugated hyperbilirubinemia and clear liver on histology, when in Dubin Johnson the liver is dark from bilirubin.

Question 2

Shwachman-Diamond Syndrome (SDS)

Answer 2

▪ Pancreatic insufficiency (steatorrhea, failure to thrive)
▪ EPI is transient and may actually improve over time
▪ Cytopenias
▪ Primarily neutropenia
▪ Skeletal abnormalities
▪ Due to metaphyseal dysostosis