A HRG novel mutation associated with idiopathic portal hypertension: Case report and literature review  

作　　者：Shan Tang Li Bai Wei Zhang Wenyan Song Hui Liu Lei Li Chen Liang Zhongping Duan Sujun Zheng 

机构地区：[1]The First Unit,Department of Hepatology,Beijing YouAn Hospital,Capital Medical University,Beijing,China [2]The Fourth Unit,Department of Hepatology,Beijing YouAn Hospital,Capital Medical University,Beijing,China [3]Beijing Key Laboratory of Liver Failure and Artificial Liver Treatment Research,Beijing,China [4]Department of Radiology,Beijing YouAn Hospital,Capital Medical University,Beijing,China [5]Department of Pathology,Beijing YouAn Hospital,Capital Medical University,Beijing,China [6]Department of Digestive Center,Beijing YouAn Hospital,Capital Medical University,Beijing,China

出　　处：《iLIVER》2022年第2期90-95,共6页国际肝胆健康（英文）

基　　金：supported by grants from the Key Medical Professional Development Plan(Sailing plan)of Beijing Hospital Management Center(ZYLX202125);the Beijing Advanced Innovation Center for Big DataBased Precision Medicine(1212040205);the Beijing Municipal Natural Science Foundation(7202068,72222093,and 7222094);the Digestive Medical Coordinated Development Center of Beijing Municipal Administration of Hospitals(XXZ0503);Capital Health Development Research Project(2022-1-2182).

摘　　要：Idiopathic portal hypertension(IPH)is defined as the presence of portal hypertension in the absence of a common cause.IPH can have several etiologies,one of which is a genetic disorder.Some genetic mutations,such as KCNN3 and DGUOK,were shown to be related to IPH pathogenesis.This is the first case report of a 22-year-old man who was diagnosed with IPH with a novel heterozygous mutation in the histidine-rich glycoprotein gene(c.545G>C,p.R182T).Using bioinformatics analysis and the protein quantification method,we showed that this novel mutation has a pathogenetic role in IPH.Our study broadens the mutation spectrum of the histidine-rich glycoprotein gene and provides new ideas for IPH etiology.

关 键 词：Case report HRG gene Heterozygous mutation IPH 

分 类 号：R575.2[医药卫生—消化系统]