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 K...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.展开更多
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)+2 种基金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).
文摘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.
