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目的分析我院肝豆状核变性的临床特点和诊疗情况。方法回顾并分析比较了2000年1月～2006年5月我院收治的35例肝豆状核变性患者的临床特点和诊断情况。结果(1)首发症状以肝功能受损为主者25例,以神经系统受累为主者6例;(2)肝脏受累的患者年龄为9.8±3.9岁,神经系统受累的患者年龄为10.3±2.7岁;(3)31例患者检查了K-F环,其中阳性29例,阳性率93.5%;31例患者测定了24h尿铜排泄,均有不同程度的升高(>100μg/24h),阳性率100%;(4)本病首诊时的误漏诊率较高,35例首诊误漏16例(45.7%),误诊以病毒性肝炎和肝硬化者为多。结论肝豆状核变性临床表现多样,除了主要累及肝脏和神经系统外,还可累及肾脏和骨关节等,对于非典型病例临床诊断困难。K-F环和尿铜排泄对诊断本病敏感度高,且简单易行,费用低,值得推荐。
Objective To analyze the clinical features and diagnosis and treatment of hepatolenticular degeneration in our hospital. Methods The clinical features and diagnosis of 35 patients with hepatolenticular degeneration admitted in our hospital from January 2000 to May 2006 were retrospectively analyzed and compared. Results (1) The first symptom of hepatic dysfunction in 25 cases, mainly in the nervous system involvement in 6 cases; (2) the liver involvement of patients aged 9.8 ± 3.9 years, the nervous system involvement of patients was 10.3 ± 2.7 years old; (3) 31 patients were examined KF ring, of which 29 cases were positive, the positive rate of 93.5%; 31 patients were measured 24h urinary excretion of copper, both with varying degrees of elevation (> 100μg / 24h), the positive rate 100%; (4) The first diagnosis of misdiagnosis of the disease was high, 35 cases of first diagnosis missed 16 cases (45.7%), misdiagnosed as viral hepatitis and cirrhosis were more. Conclusions The clinical manifestations of Wilson’s disease are diverse. In addition to the main involvement of the liver and nervous system, it can also affect the kidneys and bone and joint joints. Clinical diagnosis of atypical cases is difficult. K-F ring and urinary copper excretion on the diagnosis of the disease, high sensitivity, and simple, low cost, it is recommended.