论文部分内容阅读
目的确诊2例肯尼迪病患者,并对其临床和分子生物学特点进行报道。方法总结2例临床拟诊肯尼迪病患者的临床资料,对其雄激素受体基因第1外显子进行分子生物学检测,并分析其临床表型特征。结果 2例患者均表现为以肢体近端和延髓受累为主的下运动神经元损害,其中,例1合并少精子症。二者血清肌酸激酶水平均明显增高,并存在明显的脂质代谢异常。基因检测结果显示,例1的雄激素受体基因第1外显子中 CAG 重复序列数为52个,例2的 CAG 重复序列数为48个,证明2例均为基因检测确诊的肯尼迪病患者。结论肯尼迪病的临床特点是进展缓慢的以肢体近端和延髓部受累为主的下运动神经元综合征,伴有内分泌或代谢异常。我们重复了肯尼迪病的实验室检测方法,肯尼迪病的确诊需依靠基因检测。
Objective To confirm two cases of Kennedy disease and report its clinical and molecular biological characteristics. Methods The clinical data of 2 patients with Kennedy disease were retrospectively analyzed. The molecular biology of the first exon of androgen receptor gene was analyzed and the clinical phenotypic characteristics were analyzed. Results All the 2 patients presented with lower motor neuron damage mainly involving the proximal and medullary limbs of the limbs. Among them, oligozoospermia was found in case 1. Both serum creatine kinase levels were significantly increased, and there is significant abnormal lipid metabolism. Gene test results showed that in Example 1, the number of CAG repeat sequences in exon 1 of the androgen receptor gene was 52 and the number of CAG repeat sequences in Example 2 was 48, both of which were confirmed to be Kennedy-confirmed patients . Conclusions The clinical features of Kennedy disease are slow progressing lower motor neuron syndrome with proximal and medullary involvement, with endocrine or metabolic abnormalities. We repeated the laboratory test for Kennedy disease and the diagnosis of Kennedy disease relies on genetic testing.