Kennedy病患者的临床特点分析（附7例报道）

目的：对Kennedy病（KD）的临床特点进行分析。方法：收集7例KD患者的临床资料，分析其临床与实验室辅助检查结果的特点及雄激素受体（AR）基因外显子1编码的CAG三核苷酸重复序列的检测结果。结果：KD患者均于中青年发病，进展缓慢。临床主要表现为肢体和球部的下运动神经元性瘫痪。面肌颤搐及上肢震颤常见，不对称的肢体无力及远端损害并不罕见，患者性激素水平正常，但部分患者可出现男性乳腺发育等轻度雄激素不敏感症状。患者的血清肌酸激酶水平普遍增高，部分患者三酰甘油水平轻度增高，肌电图呈广泛的慢性神经源性损害，有感觉神经元及脑神经运动核的受累。AR基因外显子1中CAG重复序列个数〉40次。结论：KD的临床表现与以往文献报道基本一致，但也有诸如不对称的肢体无力及肢体远端起病等不典型表现。

The Clinical Features of Kennedy''''s Disease(Seven Cases Attached)

Aim： To summarize clinical features of 7 patients with Kennedy＇s disease（KD）. Methods： We studied clinical data, laboratory examinations and results of gene analysis of androgen receptor of 7 KD patients. Results： Patients with KD are often adult-onset, exhibiting of lower motor neuron paralysis and atrophy involved with spinal and bulbar muscle. Fasciculations of facial muscle and postural tremors are often present in patients. Asymmetric and distal weakness of limbs is not rarely seen. Some patients have signs of partial androgen insensitivity though their levels of sexual hormone are normal. The levels of serum creatine phosphokinase and triglyceride mildly increased. Conclusion： Most clinical features of Chinese KD patients consisted with previously reported cases. Some atypical aspects such as asymmetric and distal weakness of limbs at the onset should also be considered.