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World J Gastroenterol. May 21, 2014; 20(19): 5867-5874
Published online May 21, 2014. doi: 10.3748/wjg.v20.i19.5867
Published online May 21, 2014. doi: 10.3748/wjg.v20.i19.5867
ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones
Milan Jirsa, Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic
Milan Jirsa, Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University in Prague, 12801 Prague, Czech Republic
Jiří Bronský, Jiří Nevoral, Department of Pediatrics, Second Faculty of Medicine, Charles University in Prague and University Hospital Motol, 15006 Prague, Czech Republic
Lenka Dvořáková, Martin Hřebíček, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, 12808 Prague, Czech Republic
Jan Šperl, Department of Hepatogastroenterology, Institute for Clinical and Experimental Medicine, 14021 Prague, Czech Republic
Vít Šmajstrla, Bormed Private Health Centre, 72200 Ostrava, Czech Republic
Jiří Horák, 1st Department of Internal Medicine, Third Faculty of Medicine, Charles University in Prague, 10034 Prague, Czech Republic
Author contributions: Jirsa M and Hřebíček M designed the study, wrote the draft and performed statistical analysis; Bronský J and Nevoral J selected patients with idiopathic gallstones; Dvořáková L supervised mutation analysis and performed pathogenicity predictions; Šperl J, Šmajstrla V and Horák J provided clinical data and samples of the LPAC families; all contributed to writing the draft.
Supported by The project (Ministry of Health, Czech Republic) for development of research organization 00023001 (IKEM, Prague, Czech Republic) - Institutional support; PRVOUK-P24/LF1/3 and MH CZ - DRO VFN64165 to Dvořáková L and Hřebíček M
Correspondence to: Milan Jirsa, MD, PhD, Center for Experimental Medicine, Institute for Clinical and Experimental Medicine, Vídeňská 1958/9, 14021 Prague, Czech Republic. milan.jirsa@ikem.cz
Telephone: +420-2-61362773 Fax: +420-2-41721666
Received: May 23, 2013
Revised: July 25, 2013
Accepted: August 16, 2013
Published online: May 21, 2014
Revised: July 25, 2013
Accepted: August 16, 2013
Published online: May 21, 2014
Core Tip
Core tip: Mutations in ABCB4 are not overrepresented in children with idiopathic gallstones who fulfill the clinical and laboratory criteria for low phospholipid-associated cholelithiasis syndrome (Gallbladder Disease 1, OMIM #600803). Sexual immaturity prevents manifestation of low phospholipid-associated cholelithiasis. In young females, manifestation of low phospholipid-associated cholelithiasis syndrome such as intrahepatic cholestasis with elevated serum activity of gamma-glutamyltransferase may be induced by hormonal contraceptives.