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ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones

World Journal of Gastroenterology 2014年第19期20卷 5867-5874页

作者： Milan Jirsa Jiri Bronsky Lenka Dvorakova Jan Sperl Vit Smajstrla Jiri Horak Jiri Nevoral Martin Hrebicek Center for Experimental Medicine Institute for Clinical and Experimental Medicine14021 PragueCzech Republic Institute of Medical Biochemistry and Laboratory Diagnostics First Faculty of MedicineCharles University in Prague12801 PragueCzech Republic Department of Pediatrics Second Faculty of MedicineCharles University in Prague and University Hospital Motol15006 PragueCzech Republic Institute of Inherited Metabolic Disorders First Faculty of MedicineCharles University in Prague and General University Hospital in Prague12808 PragueCzech Republic Department of Hepatogastroenterology Institute for Clinical and Experimental Medicine14021 PragueCzech Republic Bormed Private Health Centre 72200 OstravaCzech Republic 1st Department of Internal Medicine Third Faculty of MedicineCharles University in Prague10034 PragueCzech Republic

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 ***: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 5young females with suspected LPAC and their families(5 probands,15 additional family members).The probands came to medical attention for contraceptiveassociated intrahepatic ***:A possibly pathogenic variant of ABCB4was found only in one of the 35 pediatric subjects with idiopathic cholesterol gallstones whereas 15 members of the studied 5 LPAC kindreds were confirmed and another one was highly suspected to carry predictably pathogenic mutations in *** these 16,however,none developed gallstones in *** 5index patients,all young females carrying at least one pathogenic mutation in one allele of ABCB4,manifestation of LPAC as intrahepatic cholestasis with elevated serum activity of gamma-glutamyltransferase was induced by hormonal *** ABCB11c.1331T>C and ABCG8 c.55G>C were not significantly overrepresented in the 35 examined patients with suspect ***:Clinical criteria for LPAC syndrome caused by mutations in ABCB4 cannot be applied topediatric patients with idiopathic *** immaturity even prevents manifestation of LPAC.

关键词： Idiopathic cholelithiasis Intrahepatic cholestasis Oral contraceptives low phospholipid-associated cholelithiasis Gallbladder disease 1

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