摘要
目的总结分析肝豆状核变性患者临床及实验室检查特征，以期减少临床漏诊、误诊率。方法回顾性分析36例肝豆状核变性患者临床资料。结果36例患者发病年龄4～49岁，发病至确诊时间中位数为18．2个月；首发肝脏症状者23例（63．89％），神经精神症状者7例（19．44％），血液系统损害者2例（5．56％），肾脏症状者2例（5．56％），皮肤改变者2例（5．56%）；角膜K—F环阳性率90．00％（27／30），血清铜蓝蛋白异常率97．14％（34／35），肝脏、胆囊、脾脏超声或腹部CT检查异常率96．67％（29／30），头颅CT或MRI异常率55．00％（11／20）；11例入院时即明确诊断，25例首诊误诊，误诊率为69．44％。结论肝豆状核变性临床表现复杂多样，应及时进行相关检查，以明确诊断，及时治疗。
Objective To analyze the clinical and laboratory characteristics of hepatolenticular degeneration to reduce missed diagnosis and misdiagnosis rates. Methods The clinical data of 36 patients with hepatolenticular degeneration were retrospectively analyzed. Results Hepatolenticular degeneration occurred in patients aged from 4 to 49 years old. The median time from onset to diagnosis was 18. 23 months. The first episode was hepatic symptoms in 23 patients （63.89%）, neuropsychiatrie symptoms in 7 patients （19. 44%）, blood system damage in 2 patients （5. 56%）, renal symptoms in 2 patients （5.56%）, and skin changes in 2 patients （5.56%）. The positive rate of Kayser-Flelscher ring was 90.00% （27/30）. The rate of abnormal serum ceruloplasmin was 97. 14% （34/35）. The abnormal rate of liver, bladder and spleen on ultrasound or the abnormal rate of abdominal CT was 96. 67%（29/30）. The abnormal rate on cranieal CT and MRI was 55.00% （11/20）. Eleven patients were diagnosed at admission and 25 patients were initially misdiagnosis, with the misdiagnosis rate of 69. 44%. Conclusions The clinical manifestations of hepatolenticular degeneration are various and complicated. The related laboratory examinations should be done in time in order to make a correct diagnosis and treat patients as early as possible.
出处
《中华实用诊断与治疗杂志》
2014年第4期390-391,共2页
Journal of Chinese Practical Diagnosis and Therapy
关键词
肝豆状核变性
角膜K—F环
血清铜蓝蛋白
24
h尿铜
Hepatolenticular degeneration
Kayser-Fleischer ring
serum ceruloplasmin
24-hour urinary copper
