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

Abstract

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.