基因检测确诊肯尼迪病一例并文献复习

A Case of Kennedy Disease Confirmed by Ge-netic Testing and Literature Review

肯尼迪病(Kennedy’s disease, KD)是一种罕见的X连锁隐性遗传性下运动神经元疾病,以进行性双下肢无力为主要特征,可伴有雄激素不敏感症状和内分泌受累症状。本文报道1例KD病例,该患者进行性双下肢无力,肌肉萎缩、跳动,伴舌肌萎缩,肌酶增高,肌电图显示感觉、运动神经均受累。经基因检测检出患者雄激素受体基因(androgen receptor, AR)中CAG重复数为47,为致病型。现将该患者的诊疗经过、家属基因分析进行总结。

Kennedy’s disease (KD) is a rare X-linked recessive lower motor neuron disease characterized by progressive lower limb weakness, and it may be accompanied by androgen insensitivity and endo-crine involvement symptoms. This paper reports a case of KD, a patient with progressive lower limb weakness, muscle atrophy, beat, tongue muscle atrophy, increased myase, electromyography which showed sensory and motor nerve involvement. The number of CAG repeats of AR gene detected by gene test was 47, which was the pathogenic type. The diagnosis and treatment process of the pa-tient and genetic analysis of family members are summarized.