A novel ABCB11 variant in compound heterozygosity:BRIC2 or PFIC2?
Marco Biolato1
Rosy Terranova2
Nicholas Viceconti2
Giuseppe Marrone1
Luca Miele1
Maria Cristina Giustiniani1
Paola Francalanci3
Annalisa Gazzellone2
Alessia Bauleo4
Elena Falcone4
Maurizio Genuardi1
Antonio Grieco1
1.Department of Medical and Surgical Sciences,CEMAD,Fondazione Policlinico Universitario Agostino Gemelli IRCCS,Rome,Italy;Department of Translational Medicine and Surgery,Catholic University of Sacred Heart,Rome,Italy2.Department of Translational Medicine and Surgery,Catholic University of Sacred Heart,Rome,Italy3.Department of Pathology,Children’s Hospital Bambino Gesu?IRCCS,Rome,Italy4.BIOGENET,Medical and Forensic Genetics Laboratory,Cosenza,Italy
摘要：Introduction
The ABCB11 gene encodes for the bile salt export pump(BSEP)—the main exporter of bile acids expressed on the canalicular membrane of the hepatocyte[1-3].Pathogenic variants in the ABCB11 gene can lead to a range of clinical conditions.These conditions vary from benign recurrent intrahepatic cholestasis type 2(BRIC2),which is a non-severe disorder characterized by occasional episodes of low levels of gamma-glutamyl transferase(GGT)cholestasis,to progressive familial intrahepatic cholestasis type 2(PFIC2),which is more severe and may necessitate liver transplantation.
机标关键词：abcb11compoundvariantnovelbric2heterozygositypfic2
论文发表日期：2024-10-30
在线出版日期：2026-07-17（本平台首次上网日期，不代表文献的发表时间）
页数：3( 510-512 )