以AFP升高为主要表现的成人Wilson病的临床和遗传学特征

Clinical and genetic features of an adult Wilson′s disease characterized by elevated AFP

目的探讨以AFP升高为主要表现的成人肝豆状核变性的临床和遗传学特点。方法收集患者的临床资料,采用外显子组捕获和测序患者的致病突变,并对突变前后的蛋白空间结构进行对比分析。结果患者为49岁的中年女性,临床表现为AFP升高,病理表现为肝脏脂肪变性的成人肝豆状核变性。基因分析结果显示ATP7B基因突变c.3316G>A和c.2333G>T的复合杂合子,蛋白结构预测分析显示突变c.2333G>T影响ATP7B蛋白在细胞内的定位和运输,是致病性突变。结论以AFP升高为主要表现的成人肝豆状核变性,青霉胺治疗效果确切。

Objective To diagnose and report the clinical and genetic features of an adult hepatolenticular degeneration mainly manifested by elevated AFP.Methods The clinical data of the patients were collected,the pathogenic mutations of the patients were detected by exome capture and sequencing,and the spatial structure of the protein before and after the mutation was compared and analyzed.Results The patient was a 49-year-old middle-aged female with clinical manifestations of elevated AFP and pathological manifestations of adult hepatolenticular degeneration with hepatic steatosis.Gene analysis results showed that ATP7B gene mutations c.3316G>A and c.2333G>T were compound heterozygotes,and protein structure prediction analysis showed that the mutation c.2333G>T affected the localization and transportation of ATP7B protein in cells,which was a pathogenic mutation.Conclusion Clinical and genetic analysis confirmed the diagnosis of a rare case of adult hepatolenticular degeneration with elevated AFP as the main manifestation.Penicillamine treatment is effective,expanding the clinical manifestations and differential diagnosis of the disease.