Kennedy病的国内研究系统性回顾

A systemic review of Kennedy disease research in China

目的对国内文献中经基因诊断证实的Kennedy病病例的临床资料进行回顾总结,以了解中国Kennedy病患者的临床特点。方法对1991年以来国内文献中确诊的13例Kennedy病病例的临床资料进行回顾总结。结果13例均为男性;最常见的临床症状为舌肌萎缩和震颤(9/13)。实验室检查中以血清肌酸磷酸激酶升高最常见(12/13)。肌电图检查提示神经源性损害(12/13);肌肉活检提示神经源性肌萎缩。神经活检表现脱髓鞘为主的神经损害。结论目前国内对Kennedy病的认识不足,对疑似病例需基因诊断证实。

Objective To retrospectively review the clinical data of genetically-confirmed patients with Kennedy disease reported in China, so as to gain knowledge of clinical characters of Kennedy disease in Chinese patients. Methods The clinical data of the patients with confirmed Kennedy disease in China since 1991 were retrospectively analyzed. Results All the 13 cases were male. The most common clinical symptom was atrophy of muscles of tongue （9/13）; the most common abnormality in laboratory examination was elevation of creatine phosphate kinase （CPK, 12/13）. Electromyogram （EMG） revealed typical nerve impairments （12/13） ; nerve biopsy revealed demylination change in the peripheral nerve; and muscle biopsy revealed muscle atrophy originating from the nerve. Conclusion Currently the knowledge of Kennedy disease is lacking in China. Genetic diagnosis is necessary for suspected cases with Kennedy disease. （Shanahai Med J, 2009, 32： 131-132）