肝豆状核变性的临床误诊研究

目的：探讨肝豆状核变性误诊比例，病种，发生频次及与疗效的关系，为避免误诊误治提供参考，方法：分析初次的肝豆状核变性患者，在首发症状出现后就诊2个以上医院，时间超过3个月仍被诊断或尚不能明显诊断者，被列为误诊或诊断不明，并对各组有关资料进行统计学处理，结果：1011例患者中51．04％被长期误诊（516／1011），19．09％长期诊断不明（193／1011），仅29．87％（302／1011）能在首发症状出现3个月内获得正确诊断，被误疹的病名多达百余种，最常见的有各型肝炎，肝硬化，肝肿大，脾功能亢进，各种关节炎，各型肾炎，脑为脑病，精精病，各种盆血等，共857例次，治疗前后3组间的严重程序及疗效对比差异有非常显著意义（P＜0．01），结论：本病易被长期误诊或诊断不明，早期诊断和及时治疗对预后至关重要，对有上述症状者通过检查角膜K－F环进行初筛，必须时行铜代谢检查预以确诊。

Study on the clinical misdiagnosis of hepatolenticular degeneration

Objective To study the proportion and frequency of misdiagnosis of hepatolenticular degeneration (HLD), diseases easily confused with HLD, and the relation between misdiagnosis and curative effect so as to sum up experience and improve diagnosis. Methods 1 011 cases with the confirmed diagnosis of HLD who were hospitalized in the Hospital Affiliated to the Institute of Neurology, Anhui College of TCM from November 1993 to June 2000 were analyzed. Those patients who had attended two or more than two hospitals and had been misdiagnosed as other diseases or failed to get a clear diagnosis for 3 months and over before hospitalization were included in the group of clinical misdiagnosis or the group without a definite diagnosis. Relevant data were analyzed. Results 516 cases (51.04%) were misdiagnosed, 193 cases (19.09%) failed to be diagnosed as a specific disease, only 302 cases (29.87%) had been diagnosed as HLD within 3 months after the onset. The 516 cases had been misdiagnosed as more than 100 different diseases, including all types of hepatitis, cirrhosis, splenomegaly, hepatomegaly, arthritis, nephritis, encephalitis, encephalopathy, psychosis, anaemia, and so on. The curative effect was much better in the group with early diagnosis than in the groups with misdiagnosis and without a clear diagnosis ( P <0.01). Conclusion HLD is often misdiagnosed as other diseases or fails to get a clear diagnosis. Early diagnosis and treatment without delay is critical to the prognosis. Patients with symptoms described in this article should be examined for the presence of corneal K F ring and copper metabolism teat should be made when necessary.