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目的探讨小儿肝豆状核变性(WD)的临床特点及误诊情况。方法回顾性分析45例WD患儿临床特点、误诊情况及治疗。结果首发症状以肝功能受损为主者33例,神经系统受累为主者4例,溶血性贫血为主者2例,同时以肝功能及神经系统受累者3例,肝功能及肾脏受累者3例。首诊误诊为肾炎者2例,溶血性贫血2例,癫痫2例,进行性肌营养不良1例,营养不良1例。结论 WD临床表现复杂多样,易被误诊。
Objective To investigate the clinical features and misdiagnosis status of children with hepatolenticular degeneration (WD). Methods Retrospective analysis of 45 cases of WD children clinical features, misdiagnosis and treatment. Results The first symptom of liver function in 33 cases, the main nervous system involvement in 4 cases, hemolytic anemia mainly in 2 cases, while liver function and nervous system involvement in 3 cases, liver function and kidney involvement 3 cases. The first diagnosis of misdiagnosed as nephritis in 2 cases, 2 cases of hemolytic anemia, epilepsy in 2 cases, 1 case of progressive muscular dystrophy, malnutrition in 1 case. Conclusion WD clinical complex and diverse, easily misdiagnosed.