肯尼迪病患者的临床表型与基因型分析

发布时间：2018-04-08 10:37

本文选题：肯尼迪病　切入点：基因诊断　出处：《中风与神经疾病杂志》2017年09期

【摘要】：目的探讨肯尼迪病(Kennedy’s disease,KD)患者的临床特征和基因特点,以加强对KD的认识,减少误诊漏诊率。方法纳入2013年1月~2017年4月广州军区广州总医院神经内科收治的8例经基因确诊的KD患者,分析其临床特征、实验室检查、肌电图、神经电图和基因特点,使用肌萎缩侧索硬化症评分量表(amyotrophic lateral sclerosis rating scale,ALSFRS)作为运动功能量表进行病情评估,分析临床特征及其与CAG重复序列数目的关系。结果所有患者均为成人发病,平均年龄为(36.63±4.14)岁,确诊病程平均为(12.13±3.44)y,均表现为四肢无力和肌肉萎缩,6例出现舌肌萎缩和构音障碍、肢体震颤、口周面肌束颤,4例性功能下降,6例乳腺发育。实验室检查结果 7例肌酸激酶(creatine kinase,CK)增高,8例甘油三酯增高,6例尿酸增高,2例睾酮增高。肌电图提示所有患者均表现为广泛神经源性损害,运动神经和感觉神经动作电位波幅降低,部分神经传导速度下降。AR基因CAG重复序列的重复次数为44~58次,CAG拷贝数与发病年龄呈负相关(r=-0.753,P=0.031),与ALSFRS评分呈负相关(r=-0.733,P=0.039),与CK水平无关(r=0.250,P=0.550)。结论 KD的临床特点为缓慢进展的延髓和脊髓肌肉萎缩无力,伴有肢体震颤、面肌束颤,部分可有内分泌功能及代谢紊乱。CAG拷贝数越多,则发病年龄越早,运动功能评分越低。CAG拷贝数可作为KD病情的预测指标。
[Abstract]:Objective to investigate the clinical and genetic characteristics of patients with Kennedy disease (KD) in order to enhance the understanding of KD and reduce the misdiagnosis and missed diagnosis rate.Methods from January 2013 to April 2017, 8 patients with KD diagnosed by gene were included in the Department of Neurology, Guangzhou General Hospital of Guangzhou military region, Guangzhou military region. The clinical features, laboratory examination, electromyogram, electromyogram and gene characteristics were analyzed.The amyotrophic lateral sclerosis rating scalescale (ALSFRSs) was used as the motor function scale to evaluate the condition of patients with amyotrophic lateral sclerosis. The clinical features and the relationship between the clinical features and the number of CAG repeat sequences were analyzed.Results all the patients were diagnosed as adults with an average age of 36.63 卤4.14 years. The average course of confirmed disease was 12.13 卤3.44 yrs. All the patients showed weakness of limbs and muscular atrophy, and 6 cases had tongue muscle atrophy and dysarthria, and limb tremor.There were 4 cases of sexual dysfunction and 6 cases of mammary gland development.The results of laboratory examination showed that creatine kinase kinase (CK) was increased in 7 cases, triglyceride in 8 cases and uric acid in 6 cases and testosterone in 2 cases.Electromyography showed extensive neurogenic damage and decreased amplitude of action potential of motor and sensory nerves in all patients.Conclusion the clinical features of KD are slow progressive muscular dystrophy of medulla oblongata and spinal cord, limb tremor, hemifacial fascicle fibrillation, and the more copies of partial endocrine function and metabolic disorder. CAG, the earlier the onset age is.The lower the motor function score, the lower the copy number of CAG can be used as a predictor of KD disease.
【作者单位】：广州军区广州总医院神经内科;广州军区广州总医院癫痫科;广州军区广州总医院神经外科;
【基金】：广东省医学科学技术研究基金项目(No.A2015084)
【分类号】：R746

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