儿童肝豆状核变性临床分析

目的 探讨40例肝豆状核变性儿童的临床特点和实验室特征.方法 收集40例儿童肝豆状核变性的临床和实验室数据、影像学检查结果,并对误诊情况及治疗、预后做回顾性分析.结果 患儿确诊平均年龄（8.15±2.93）岁.初诊时35例儿童有症状,5例无症状.首发症状以肝功能损害为主29例,神经系统症状为主2例,肾脏损害为主3例,关节症状为主1例.40例患儿中,其父母、祖父母近亲结婚9例,有家族史者6例.37例患儿行血铜蓝蛋白检测,均低于正常水平.检查角膜K-F环39例,33例阳性.头颅核磁检查3例,均表现为双侧基底节区对称性异常信号改变.结论 肝豆状核变性在儿童期诊断困难,应提高对本病的认知水平.

The clinical analysis of hepatolenticular degeneration in children

Objective To discuss the clinical and laboratory characteristics of 40 children with Wilson disease （WD）, and to make early diagnosis, treat and improve the prognosis. Methods Clinical and laboratory data, as well as imaging examination results were collected. The diagnosis, misdiagnosis, treatment and prognosis were retrospectively analyzed. Results The mean age at diagnosis was 8.15 ±2.93 years old. 35 patients were symptomatic,5 patients were asymptomatic at diagnosis. The initial manifestations were im- pairment of liver function （29 cases）, symptoms of central nervous system （2 cases）, symptoms of impairment renal function （ 3 cases） and symptoms of bone joints （ 1 case）. Of all the 40 cases ,9 patients had a history of consanguineous mating （ parents or grandparents） and 6 patients had a positive family history. Serum ceruloplasmin level was tested in 37 patients and it decreased in all of them. Kayser - Fleischer ring was checked in 39 patients and was positive in 33. Brain MRI was performed in 3 patients and symmetrical abnormal signal of bilateral basal ganglia area was found. Conclusion Further knowledge is needed since it is difficult to make the diagnosis of WD in children.