ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

Journal of Gastroenterology
Dario DegiorgioPier Maria Battezzati

Abstract

The ABCB4 gene encodes the MDR3 protein. Mutations of this gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3) in children, but their clinical relevance in adults remains ill defined. The study of a well-characterized adult patient series may contribute to refining the genetic data regarding cholangiopathies of unknown origin. Our aim was to evaluate the impact of ABCB4 mutations on clinical expression of cholestasis in adult patients. We consecutively evaluated 2602 subjects with hepatobiliary disease. Biochemical evidence of a chronic cholestatic profile (CCP) with elevated serum gamma-glutamyltransferase activity or diagnosis of intrahepatic cholestasis of pregnancy (ICP) and juvenile cholelithiasis (JC) were inclusion criteria. The personal/family history of additional cholestatic liver disease (PFH-CLD), which includes ICP, JC, or hormone-induced cholestasis, was investigated. Mutation screening of ABCB4 was carried out in 90 patients with idiopathic chronic cholestasis (ICC), primary biliary cirrhosis (PBC), primary sclerosing cholangitis (PSC), ICP, and JC. Eighty patients had CCP. PSC and ICC patients with PFH-CLD had earlier onset of disease than those without it (p = 0.003 and p = 0.023, respective...Continue Reading

References

Feb 21, 1998·Proceedings of the National Academy of Sciences of the United States of America·J M de VreeM Hadchouel
Dec 3, 1999·Biochimica Et Biophysica Acta·I KleinA Váradi
Aug 2, 2003·Gastroenterology·Olivier RosmorducRaoul Poupon
Mar 5, 2004·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Christiane Pauli-MagnusPeter J Meier
Apr 2, 2004·Gastroenterology·Olivier RosmorducOlivier Chazouillères
Feb 14, 2007·Seminars in Liver Disease·Michael TraunerMartin Wagner
May 17, 2008·Gastroenterology·Marianne ZiolNathalie Ganne-Carrié
Jun 6, 2008·World Journal of Gastroenterology : WJG·Andrea CrosignaniMauro Podda
Aug 2, 2008·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Yuki OhishiKazuhiro Tsukamoto
Sep 11, 2008·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Daniel GotthardtPeter Sauer
Mar 6, 2009·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·D TavianD A Coviello
Apr 28, 2009·Current Opinion in Gastroenterology·Gideon M Hirschfield, Elizabeth J Heathcote
Jul 15, 2009·Journal of Hepatology·Martin WagnerMichael Trauner
Apr 28, 2010·Seminars in Liver Disease·Anne Davit-SpraulEmmanuel Jacquemin
Oct 5, 2010·Hepatology Research : the Official Journal of the Japan Society of Hepatology·Gerald U DenkThomas Pusl
Dec 2, 2010·Journal of Pediatric Gastroenterology and Nutrition·Carla ColomboUNKNOWN SIGENP Study Group for Genetic Cholestasis
Mar 6, 2012·Journal of Hepatology·David TougeronMichel Beauchant
Mar 28, 2013·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Raoul PouponVéronique Barbu
Apr 16, 2013·Gastroenterology·Gideon M HirschfieldAndrew L Mason
Apr 30, 2013·Database : the Journal of Biological Databases and Curation·Juergen HaasTorsten Schwede
Sep 21, 2013·European Journal of Human Genetics : EJHG·Dario DegiorgioDomenico A Coviello
Feb 25, 2014·Journal of Hepatology·Peter FickertUNKNOWN International PSC Study Group (IPSCSG)
Mar 4, 2014·Expert Review of Gastroenterology & Hepatology·Njideka Momah, Keith D Lindor
May 9, 2014·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Edward J AndressKenneth J Linton
Jun 28, 2014·Digestive Diseases·Kate D Williamson, Roger W Chapman

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Citations

Sep 18, 2018·International Journal of Surgical Pathology·Mukul VijMohamed Rela
Jan 5, 2021·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Antonella AvenaBenedetta Terziroli Beretta-Piccoli
Nov 25, 2019·Annals of Hepatology·Eva Sticova, Milan Jirsa
Mar 16, 2021·Journal of Pediatric Gastroenterology and Nutrition·Saul J KarpenJames E Heubi
Nov 18, 2020·Chemical Reviews·Tim KrollLutz Schmitt
Mar 30, 2019·Journal of Visceral Surgery·P GoubaultJ-Y Mabrut
Aug 12, 2021·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Daniela FalcãoTeresa Moreira

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