肯尼迪病一家系临床特点及分子遗传学研究

Clinical and genetic analysis of a pedigree of Kennedy disease

目的:报道一经基因诊断的肯尼迪病家系,探讨其临床特征和分子机制。方法:收集肯尼迪病患者家系的临床资料,用基因分析的方法,明确家系先证者雄激素受体(AR)基因第1号外显子CAG序列的重复数。结果:该家系有4例患者,临床特征为男性成年期发病,进行性四肢近端肌肉无力、萎缩,可伴乳房女性化、性功能减退,先证者经AR基因检测CAG重复数为51次,肌电图显示感觉、运动神经均受累,血清甘油三酯增高。结论:雄激素受体基因检测是诊断该病最可靠的方法,对怀疑为肯尼迪病的患者均应进行基因诊断。

Objective: To review the clinical and genetic features of a pedigree of Kennedy disease in China. Methods: The clinical data of patients from a Kennedy disease family were collected.The numbers of trinucleotide CAG repeats in exon 1 of the androgen receptor gene were determined by DNA sequencing and repeat fragment analysis. Results: In the pedigree,4 patients were identified as Kennedy disease.Clinical manifested with adult-onset,progressive proximal limb muscle weakness and atrophy,gynecomastia,oligospermia were also presented.The number of trinucleotide CAG repeats in exon 1 of the androgen receptor gene was 51 in the proband.The electrophysiological study showed sensory and motor involvement and their serum triglycerides values were elevated significantly. Conclusion: Androgen receptors gene testing is the most reliable diagnosing method,the patients suspected as Kennedy disease should have a gene testing of androgen receptors.