The Role of ABCB4 Gene Variation in Etiology of Idiopathic Cholelithiasis at the Child Age
Authors:
J. Bronský 1; M. Hřebíček 2; T. Jirásek 3; J. Šperl 4; L. Dvořáková 2; V. Šmajstrla 5; J. Horák 6; M. Jirsa 7; J. Nevoral 1
Authors‘ workplace:
Pediatrická klinika UK 2. LF a FN Motol, Praha
přednosta prof. MUDr. J. Lebl, CSc.
1; Ústav dědičných metabolických poruch UK 1. LF a VFN, Praha
přednosta prof. MUDr. M. Elleder, DrSc.
2; Ústav patologie UK 3. LF a FNKV, Praha
přednosta prof. MUDr. V. Mandys, CSc.
3; Klinika hepatogastroenterologie IKEM, Praha
přednosta prof. MUDr. J. Špičák, CSc.
4; Privátní zdravotnické zařízení Bormed, Ostrava
5; 1. interní klinika UK 3. LF a FNKV, Praha
přednosta prof. MUDr. J. Horák, CSc.
6; Pracoviště experimentální medicíny IKEM, Praha
přednosta prof. MUDr. L. Červenka, CSc.
7
Published in:
Čes-slov Pediat 2009; 64 (7-8): 337-343.
Category:
Original Papers
Overview
Background and aims:
Low phospholipid-associated cholelithiasis syndrome (LPAC) has been defined as symptomatic and recurring cholelithiasis associated with mutations in ABCB4, encoding multidrug resistance protein 3 (MDR3), the canalicular phospholipid export pump. LPAC should be suspected when at least one minor criterion is present: (a) age below 40 years at the onset of symptoms, (b) recurrence after cholecystectomy, (c) intrahepatic hyperechoic foci with a topography compatible with lipid deposits along the luminal surface of the intrahepatic biliary tree, (d) intrahepatic sludge, (e) microlithiasis, (f) history of gallstones in first-degree relatives, or (g) history of intrahepatic cholestasis of pregnancy. In our study we investigated the contribution of ABCB4 mutations to pediatric idiopathic gallstone disease.
Patients and methods:
Mutational analysis of ABCB4 was performed in 26 selected pediatric subjects with idiopathic cholesterol gallstones, and in 5 young females with suspect LPAC and their families.
Results:
No predictably pathogenic variant of ABCB4 was found in any of the 26 pediatric subjects with idiopathic cholesterol gallstones whereas 15 members of the 5 kindreds studied were heterozygotes for predictably pathogenic mutations in ABCB4. Among these 15, however, none developed gallstones in childhood.
Conclusions:
Clinical criteria for LPAC syndrome, caused by mutations in ABCB4, can not be applied to pediatric patients with idiopathic gallstones as idiopathic cholelithiasis without cholestasis or without signs of liver injury is not associated with ABCB4 mutations in childhood.
Key words:
idiopathic gallstones, MDR3, ABCB4
Sources
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2009 Issue 7-8
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