Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

作     者：Mariano Piazzolla Nicola Castellaneta Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo 

作者机构：Section of GastroenterologyDepartment of Emergency and Organ TransplantationUniversity of BariBari 70124Italy Laboratory of Medical GeneticsOspedale Pediatrico Bambino GesùRome 00165Italy Section of PathologyDepartment of Emergency and Organ TransplantationUniversity of BariBari 70124Italy 

出 版 物：《World Journal of Hepatology》 (世界肝病学杂志（英文版）（电子版）)

年 卷 期：2020年第12卷第2期

页      面：64-71页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主　　题：Benign recurrent intrahepatic cholestasis ATP8B1/ABCB11 genes Jaundice Heterozygous variant of ATP8B1 gene(c.1558A>T) Familial inheritance Case report 

摘      要：BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular ***,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558AT)in heterozygous form is involved in BRIC *** SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal *** and chronic liver diseases with viral,metabolic and autoimmune etiology were *** intra/extra-hepatic bile ducts were demonstrated by magnetic *** biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary *** satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was ***,we found a novel nonsense variant of ATP8B1 gene(c.1558AT)in *** variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal *** confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th *** A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.