| Literature DB >> 35535055 |
Sahana Shankar1, Apurva Pande2, Thenral S Geetha3, Karthik Raichurkar2, Malikarjun Sakpal2, Rajiv Lochan2, Sonal Asthana2.
Abstract
We report a novel homozygous missense variant in ABCB4 gene in a Yemeni child born to consanguineous parents, with a significant family history of liver disease-related deaths, resulting in a progressive familial intrahepatic cholestasis (PFIC) type 3 phenotype requiring liver transplantation for intractable pruritus.Entities:
Keywords: ABCB11, ATP binding cassette subfamily B member 11; ABCB4 mutation; ABCB4, ATP-binding cassette subfamily B member 4; ALT, Alanine aminotransferase; AST, Aspartate aminotransferase; ATP8B1, ATPase phospholipid transporting 8B1; BSEP, bile salt export pump; FXR, farnesoid X receptor; GGT, Gamma Glutamyl- Transpeptidase; ICP, Intrahepatic cholestasis of pregnancy; MDR3, multidrug resistance p-glycoprotein 3; MYO5B, Myosin 5B; PFIC; PFIC, Progressive familial intrahepatic cholestasis; TJP2, Tight junction protein 2; congenital liver disease; liver transplantation
Year: 2021 PMID： 35535055 PMCID： PMC9077154 DOI： 10.1016/j.jceh.2021.04.010
Source DB: PubMed Journal: J Clin Exp Hepatol ISSN： 0973-6883