ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

ABSTRACT:

Aim

To investigate the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease and the potential of hormonal contraceptives to prompt clinical manifestations of multidrug resistance protein 3 deficiency.

Methods

Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional fami

SUBMITTER: Jirsa M 

PROVIDER: S-EPMC4024796 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature