biostudies-literatureUnknown20(19)Jirsa M<h4>Aim</h4>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.<h4>Methods</h4>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 famiWorld journal of gastroenterology5867-74https://www.ebi.ac.uk/biostudies/studies/S-EPMC4024796biostudies-literatureABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.PMC4024796Horak JSperl JSmajstrla VBronsky JDvorakova LJirsa MNevoral JHrebicek MfalseABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.<h4>Aim</h4>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.<h4>Methods</h4>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 fami2014-01-01T00:00:00Z2014 May2025-06-01T01:33:28.78Z2019-03-27T01:28:26ZS-EPMC40247962491434710.3748/wjg.v20.i19.5867