肯尼迪病的临床特点及基因检测

Clinical features and genetic testing of Kennedy disease

摘要:

总结并分析2例肯尼迪病(KD)患者的临床表现、诊断、鉴别诊断及治疗。2例患者主要临床表现为进行性肢体无力、舌肌萎缩伴震颤；实验室检查示肌酸激酶(CK)明显增高；肌电图示上下肢周围神经损害且累及感觉纤维；雄激素受体(AR)基因检测CAG重复次数均>38。KD是一类以下运动神经元病变为主的疾病，基因检测是其诊断的金标准，还需与肌萎缩性侧索硬化症(ALS)、糖尿病周围神经病(DPN)、慢性炎性脱髓鞘性多发性神经根神经病(CIDP)相鉴别。

Abstract:

This article summarizes and analyzes the clinical manifestations， diagnosis， differential diagnosis， and treatment of two patients with Kennedy disease （KD）. The two patients had the main clinical manifestations of progressive limb weakness， tongue muscle atrophy， and lingual tremor. Laboratory examination showed a significant increase in creatine kinase； electromyography showed peripheral nerve damage of upper and lower limbs involving the sensory fibers； androgen receptor gene testing showed a CAG repeat number of >38. KD is a type of disease with the main clinical manifestation of lower motor neuron lesions. Genetic testing is the gold standard for its diagnosis， and it needs to be differentiated from amyotrophic lateral sclerosis， diabetic peripheral neuropathy， and chronic inflammatory demyelinating polyneuropathy.