一种与特发性门静脉高压相关的新型突变：病例报告及文献综述。
A novel mutation associated with idiopathic portal hypertension: Case report and literature review.
作者信息
Tang Shan, Bai Li, Zhang Wei, Song Wenyan, Liu Hui, Li Lei, Liang Chen, Duan Zhongping, Zheng Sujun
机构信息
The First Unit, Department of Hepatology, Beijing YouAn Hospital, Capital Medical University, Beijing, China.
The Fourth Unit, Department of Hepatology, Beijing YouAn Hospital, Capital Medical University, Beijing, China.
出版信息
ILIVER. 2022 Jul 14;1(2):90-95. doi: 10.1016/j.iliver.2022.06.001. eCollection 2022 Jun.
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.
特发性门静脉高压（IPH）被定义为在没有常见病因的情况下出现门静脉高压。IPH可有多种病因，其中之一是遗传疾病。一些基因突变，如KCNN3和DGUOK，已被证明与IPH发病机制有关。这是首例关于一名22岁男性的病例报告，该患者被诊断为IPH，其富含组氨酸糖蛋白基因存在一种新的杂合突变（c.545G>C，p.R182T）。通过生物信息学分析和蛋白质定量方法，我们表明这种新突变在IPH发病机制中起致病作用。我们的研究拓宽了富含组氨酸糖蛋白基因的突变谱，并为IPH病因提供了新的思路。
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