肝豆状核变性首发症状与误诊分析

Analysis of the initial symptom and the cause of misdiagnosis of hepatolenticular degeneration

目的分析肝豆状核变性的首发症状与误诊原因,为避免误诊提供借鉴。方法对32例肝豆状核变性患者临床资料进行分析。结果32例患者中以神经系统症状起病18例,以肝脏症状起病7例,以精神症状起病3例,以肾病症状起病2例,以关节疼痛和溶血性贫血起病各1例。常被误诊为舞蹈病、脑炎、帕金森病、甲状腺功能亢进、精神分裂症、肝炎、肝硬化、肾炎、骨关节炎、溶血性贫血等疾病。结论本病易被误诊误治,早期诊断和及时治疗对预后至关重要,对具有上述易被误诊病症者,应及早通过角膜KF环、铜代谢以及基因检测等检查予以确诊。

Objective To analyze the initial symptom and the cause of misdiagnosis of hepatolenticular degeneration patients.Methods The clinical features of 32 hepatolenticular degeneration patients were analyzed.Results Of the 32 patients with hepatolenticular degeneration,the initial symptom of 18 cases were nervous system symptom,7 were hepatic symptom,3 were mental symptom,2 were nephrotic syndrome,1 was arthralgia and 1 was hemolytic anemia.Hepatolenticular degeneration was often misdiagnosis as tarantism encephalitis,Parkinson's disease,hyperthyreosis,schizophrenia and hepatitis,cirrhosis of liver,nephritis,osteoarthritis and hemolytic anemia,et al.Conclusions Hepatolenticular degeneration is misdiagnosis easily and leads to the wrong treatments.It reminds us checking the K-F circle of kerat,copper metabolism and gene as soon as possible for the diagnosis of suspect hepatolenticular degeneration patients are very important.