Rare Diseases Symptoms Automatic Extraction

Atypical causes of cholestasis.

[benign recurrent intrahepatic cholestasis]

Cholestatic liver disease consists of a variety of disorders. Primary sclerosing cholangitis and primary biliary cirrhosis are the most commonly recognized cholestatic liver disease in the adult population, while biliary atresia and Alagille syndrome are commonly recognized in the pediatric population. In infants, the causes are usually congenital or inherited. Even though jaundice is a hallmark of cholestasis, it is not always seen in adult patients with chronic liver disease. Patients can have "silent" progressive cholestatic liver disease for years prior to development of symptoms such as jaundice and pruritus. In this review, we will discuss some of the atypical causes of cholestatic liver disease such as benign recurrent intrahepatic cholestasis, progressive familial intrahepatic cholestasis, Alagille Syndrome, biliary atresia, total parenteral nutrition induced cholestasis and cholestasis secondary to drug induced liver injury.

Diseases presenting "biliary atresia" symptom

  • benign recurrent intrahepatic cholestasis
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome

This symptom has already been validated