Caroli Disease

Question 1

Caroli disease 
Caroli syndrome
Crijler syndrome type 1, 2
Gilbert
Dubin Johnson
Rotor syndrome
Allagile

Answer 1

Intrahepatic cong Biliary dilatations recurrent acute colangitis and biliary stones/ cholangiocarcinoma
Caroli syndrome: Same biliary dilatation and cong hepatic fibrosis polycystic kidneys
Crijjler 1: Autosomal recessive, no glucuronyl transferase/ fatal kerniecterus needing exchange transfusion ‘ phototherapy to childhood, liver transplant
2 dominant : decreased gluc transfer / neon kernicterus/phenobarbital, liver transplant
Dubin Johns: bili excretion defect/ mild conj hyperbili/ pigment black liver
Gilbert: AD/ hepatic UDPGT / during illness/ bili level
Rotor: deficiency in uptake and storage of bili
Allagile arteriohepatic/ peripheral PS/ butter fly
Vertebrae ( arch defect) tubuliinterstitial nephropathy/ post embryotoxon/ tuberous xanthoma progressive intrahepatic bile duct paucity

Question 2

Protein-losing gastroenteropathy

Answer 2

Protein-losing gastroenteropathy – (eg, reduced serum concentrations of albumin and gamma globulins, peripheral edema). Perform fecal alpha-1 antitrypsin testing to measure fecal protein losses

Question 3

Pancreatic insufficiency – (eg, suspicion of cystic fibrosis or marked steatorrhea).

Answer 3

Pancreatic insufficiency – (eg, suspicion of cystic fibrosis or marked steatorrhea). Perform indirect tests of pancreatic function, including measurement of fecal elastase-1 and/or chymotrypsin; the stool content of these enzymes is reduced in patients with pancreatic insufficiency. The diagnostic accuracy of these tests is low and is discussed in greater detail separately.