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Original Research
Severe hepatocellular dysfunction in obstetric cholestasis related to combined genetic variation in hepatobiliary transporters
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1
Department of Medicine II, Saarland University Hospital, Homburg (Germany)
Clin. Exp. Obstet. Gynecol. 2012, 39(1), 32–35;
Published: 10 March 2012
Abstract
Obstetric cholestasis (OC) is a cholestatic disorder with a prominent genetic background including variation in diverse hepatobiliary lipid transporters, such as ABCB4 (phospholipids) and ABCB11 (bile salts). Given a marked hepatocellular dysfunction in an OC patient indicated by > 40-fold rise in alanine aminotransferase activity and minor γ-glutamyl transpeptidase increases, we performed genotyping of candidate gene variants associated with adult cholestatic phenotypes. Genetic analysis revealed the heterozygous ABCB4 mutation p.R590Q, the ABCB11 variant p.V444A and the lithogenic ABCG8 variant p.D19H. Aggregation of multiple hepatobiliary transporter variants is rare in OC, and may cooperate to negatively modulate hepatobiliary transport capacities.
Keywords
Obstetric cholestasis
Hepatobiliary transporters
ABCB4
ABCB11
ABCG8
Low phospholipid-associated cholelithiasis
Cholelithiasis