Identification of a new, likely pathogenic, heterozygous ABCB4 variant causing low phospholipid-associated cholelithiasis.

Abstract excerpt

Low phospholipid-associated cholelithiasis (LPAC) is a cholestatic genetic disorder caused by mutations in the ABCB4 gene, which encodes the multidrug resistance protein 3 (MDR3) that is crucial for bile phospholipid transport. We report a boy in late adolescence presenting with recurrent biliary symptoms post cholecystectomy, elevated cholestatic liver enzymes and a family history of hepatobiliary and pancreatic...

Topics

• Humans
• ATP Binding Cassette Transporter, Subfamily B
• Male
• Cholelithiasis
• Adolescent
• Ursodeoxycholic Acid