作者：赵璐璐，余列，卢宏

单位：

450000河南省郑州市，郑州大学第一附属医院神经内科 通信作者：卢宏，E-mail：zzu_luhong1@163.com

Units：

Department of Neurology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450000, China Corresponding author: LU Hong, E-mail: zzu_luhong1@163.com

关键词：

肯尼迪病; 临床特征; 雄激素; 雄激素受体;

Keywords：

Kennedy disease; Clinical characteristics; Androgen; Androgen receptors

CLC：

DOI：

10.12114/j.issn.1008-5971.2022.00.122

Funds：

摘要：

目的 分析肯尼迪病的临床特征。方法 回顾性选取2017年5月至2020年11月于郑州大学第一附属医院就诊的16例肯尼迪病患者，收集患者的临床资料，包括一般资料、实验室检查结果、神经电生理检查结果、MRI检查结果、雄激素受体（AR）基因检测结果。采用Spearman秩相关分析探讨第一外显子CAG序列重复次数与发病年龄、肌酸激酶（CK）水平的相关性。结果 16例患者均为男性，平均发病年龄（40.8±10.5）岁；平均病程（6.0±4.7）年；5例有疾病家族史。主要临床表现为肢体无力、肌萎缩和延髓麻痹，常伴有雄激素不敏感综合征、肌束震颤、内分泌功能紊乱等表现。15例患者行CK水平检查，其中11例升高；14例患者行性激素检测，其中8例促黄体生成素升高，9例垂体泌乳素升高，5例雌二醇升高，1例睾酮升高；15例患者行血脂指标检测，其中3例总胆固醇升高，11例三酰甘油升高，4例高密度脂蛋白下降；15例患者行血常规检查，其中3例出现正细胞正色素性贫血。15例患者行肌电图检查，其中13例可见部分运动神经潜伏期延迟，传导速度减慢，波幅降低；12例可见部分感觉神经传导速度减慢，波幅降低；所有患者可见典型的神经源性损伤。2例患者行下肢肌肉MRI检查，均可见肌肉萎缩、脂肪沉积及压脂高信号。16例患者AR基因检测结果显示，第一外显子CAG序列重复次数为43～64次。Spearman相关分析结果显示，第一外显子CAG序列重复次数与发病年龄呈负相关（rs=-0.559,P=0.024），与CK水平无直线相关关系（rs=0.269,P=0.333）。结论 肯尼迪病主要表现为肢体无力、肌肉萎缩，常伴有乳房发育、肢体震颤、肌束震颤、内分泌功能紊乱等表现，且第一外显子CAG序列重复次数越多，患者发病年龄越早。

Abstract：

【Abstract】 Objective To analyze clinical characteristics of Kennedy disease. Methods A total of 16 patients withKennedy disease who were treated in the First Affiliated Hospital of Zhengzhou University from May 2017 to November 2020were retrospectively selected, and the clinical data of the patients were collected, including general information, laboratory testresults, neurophysiological examination result, MRI examination result, androgen receptor (AR) genetic testing result. Spearmanrank correlation analysis was used to explore the correlation between the number of repeats of the CAG sequence in the firstexon and the age of onset and creatine kinase (CK) level. Results All the 16 patients were male, the mean age at onset was(40.8±10.5) years old, the average disease duration was (6.0±4.7) years, and 5 cases had a family history of disease. The mainclinical manifestations were limb weakness, muscular atrophy and bulbar paralysis, often accompanied by androgen insensitivitysyndrome, muscle bundle tremor and endocrine dysfunction. CK level examination was performed in 15 patients, of which 11had elevated CK. Sex hormone testing was performed in 14 patients, of which 8 had elevated luteinizing hormone, 9 had elevatedpituitary prolactin, 5 had elevated estradiol, 1 had elevated testosterone. Blood lipid index detection was performed in 15 patients,of which 3 had elevated total cholesterol, 11 had elevated triacylglycerol, 4 had decreased high density lipoprotein. Blood routineexamination was performed in 15 patients, of which 3 had normocytic normochromic anemia. Electromyography was performed in15 patients. Among them, 13 patients showed delayed latency of partial motor nerves, slowed conduction velocity, and decreasedamplitude; 12 patients showed conduction velocity and decreased amplitude of partial sensory nerves; typical neurogenic lesionswas seen in all patients. Muscle atrophy, fat deposition and hyperintensity of fat suppression were seen in both 2 patients with MRIexamination of lower extremity muscles. The AR gene detection results of 16 patients showed that the CAG sequence repeats in thefirst exon ranged from 43 to 64 times. The results of Spearman rank correlation analysis showed that the number of CAG sequencerepeats in the first exon was negatively correlated with the age of onset (rs=-0.559, P=0.024) , but had no linear correlation withthe level of CK (rs=0.269, P=0.333) . Conclusion Kennedy disease is mainly manifested as limb weakness, muscle atrophy,often accompanied by breast development, limb tremor, fasciculation, and endocrine dysfunction. The more repeats of the CAGsequence in the first exon, the earlier the patient's age of onset.

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