肝豆状核变性的早期临床特征及误诊分析

目的探讨肝豆状核变性（（hepatolenticular degeneration，HLD）的早期临床表现及早期诊断，旨在提高临床医生对本病的认识，减少误诊。方法回顾性分析48例HLD病的早期临床表现、实验室及特殊检查、首次误诊情况。结果48例患者中，神经、精神异常者33例，伴肝炎、肝硬化13例，关节痛2例，消化道出血2例，其他3例。裂隙灯下角膜K—F环阳性47例。血清铜蓝蛋白、血清铜均降低。误诊最常见的依次为各种类型肝炎、肝硬化、精神疾患、关节炎、脱髓鞘脑病、胶质瘤、肌营养不良、肾炎、癫痫、贫血、消化道大出血和Leigh、脊髓病等，误诊率达34．5％。结论肝豆状核变性多见于青少年，神经系统及肝损害为主要临床表现，常伴有肾脏损害，K—F角膜环是重要阳性体征，头颅cT或MRI可作为辅助诊断手段。本病易被长期误诊或诊断不明，早期治疗对预后至关重要。建议对具有上述易被误诊疾病症状的患者常规行角膜K—F环及铜代谢检查，以免误诊、误治。

[ Abstract] Objective Purpose To investigate the early manifestation of hepatolenticular degeneration, and to improve the diagnosis of this disease. Method 48 cases of hepatolenticular degeneration were retrospectively analyzed, including early clinical manifestation, laboratory and other special examination, and misdiagnosis. Result 33 cases presented with neuropsyehical disorder, 13 cases presented with hepatitis ,2 cases had arthralgia, 2 cases had alimentary tract hemorrhage, and 3 cases with other menifestations. The presence of Kayser - Fleischer rings was found in 47 cases. Serum copper and ceruloplasmin were decreased in all 48 cases. Wilson＇disease was often misdiagnosed as various kinds of hepatitis, cirrhosis, lunacy, arthritis, encephalo -demyelinating disease, glioma, muscular dystrophy, nephritis, falling sickness, anaemia, alimentary tract hemorrhage and Leigh, myelopathy, et al, with the rate of misdiagnosis of 34. 5%. Conclusion Hepatolenticular degeneration, often occurs in adolescence, characterized with neurologic disease and liver damage, Kayser - Fleischer rings of the cornea, and occasional renal dysfunction, Cerebral CT or MRI scan could assist the diagnosis. This disease is easy to be misdiagnosis, and early therapy is very important to its prognosis. To improve the diagnosis of this disease, we suggest that screening examination including Kayser - Fleischer rings and copper metabolism should be done once patients present such symptoms as above mentioned.