Disorders of bile formation and biliary transport.
A wide range of cholestatic liver diseases result from various primary defects in bile formation. Clinical features include jaundice, pruritus, failure to thrive, fat malabsorption, cholelithiasis, and variably progressive cirrhosis. Accurate diagnosis of these disorders is essential for determination of prognosis and selection of the most appropriate therapies. Severe genetic defects in canalicular bile acid and phospholipid excretion lead to progressive liver disease that often requires liver transplantation. Defects in bile acid biosynthesis and aminophospholipid transport may be responsive to medical or non-transplant surgical approaches.
Tomer
Gitit
G
Division of Pediatric Gastroenetrology, One Gustave L. Levy Place, Box 1656, Mount Sinai Medical Center, New York, NY 10029, USA.
Shneider
Benjamin L
BL
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000818:Animals; D001646:Bile / Q000378:metabolism; D001659:Biliary Tract / Q000378:metabolism; D001662:Biliary Tract Surgical Procedures; D002780:Cholestasis, Intrahepatic / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018432:Drug Resistance, Multiple / Q000235:genetics; D006801:Humans; D007082:Ileum / Q000601:surgery; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D008099:Liver / Q000378:metabolism; D016031:Liver Transplantation; D009154:Mutation; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use
D018528:ATP-Binding Cassette Transporters; D014580:Ursodeoxycholic Acid