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目的:报道经基因诊断证实的一个Kennedy病家系,并对其临床、病理和分子遗传学特征进行讨论,建立关于Kenne-dy病较为完整的临床资料。方法:展开完整的家系调查,共检查3代41位个体。对先证者进行肌酶谱、肌电图、内分泌功能检查、神经肌肉活检。采集外周静脉血常规提取基因组DNA,PCR扩增雄激素受体(androgen receptor,AR)基因第一个外显子的CAG重复数。结果:先证者(Ⅲ-11个体)CAG重复数为54;1例患者(Ⅳ-2个体)CAG重复数为55;1例症状前个体(Ⅳ-8个体)CAG重复数为54。此外,还发现3例女性携带者(Ⅱ-6个体、Ⅲ-3个体、Ⅲ-15个体)。先证者肌酶增高,肌电图示神经源性损害,血睾酮增高,神经活检显示周围神经脱髓鞘改变,肌肉活检表现为神经源性肌萎缩。结论:Kennedy病临床表现无特异性,基因诊断是金标准;本病病程进展缓慢,与肌萎缩侧索硬化或延髓麻痹相比病程明显延长,预后相对良性。
OBJECTIVE: To report a pedigree of Kennedy disease confirmed by genetic diagnosis and to discuss its clinical, pathological and molecular genetic characteristics and to establish a more complete clinical data on Kenne-dy disease. Methods: Expand a complete pedigree survey, a total of 41 individuals were checked for 3 generations. Proximals were muscle enzyme spectrum, EMG, endocrine function tests, neuromuscular biopsy. Genomic DNA was extracted from peripheral venous blood and the CAG repeat number of the first exon of the androgen receptor (AR) gene was amplified by PCR. Results: The CAG repeat number of probands (Ⅲ-11 individuals) was 54; CAG repeats of 55 patients in one patient (Ⅳ-2 individuals) were 55; CAG repeats of 54 individuals in 1 patient before symptom (Ⅳ-8 individuals). In addition, three female carriers (II-6 individuals, III-3 individuals, and III-15 individuals) were also found. Prokinetic enzyme increased, EMG showed neurogenic damage, increased blood testosterone, nerve biopsy showed changes in peripheral nerve demyelination, muscle biopsy showed neurogenic muscle atrophy. Conclusion: The clinical manifestations of Kennedy disease is nonspecific and the gene diagnosis is the gold standard. The course of this disease is slow, and the course of disease is obviously prolonged compared with amyotrophic lateral sclerosis or bulbar paralysis, the prognosis is relatively benign.