肯尼迪病临床表型与遗传特点的关联分析  

Clinical and Genetics Analysis of Kennedy's Disease

作　　者：欧阳嶷[1] 崔小雪 张婧[1] 马楠[1] 丁玉璋 OUYANG Yi;CUI Xiao-xue;ZHANG Jing;MA Nan;DING Yu-zhang(Department of Neurology,the First Affiliated Hospital,China Medical University,Shenyang,Liaoning,110001,China)

机构地区：[1]中国医科大学附属第一医院神经内科,辽宁沈阳110001

出　　处：《中国血液流变学杂志》2019年第3期268-272,共5页Chinese Journal of Hemorheology

基　　金：辽宁省自然科学基金项目(201602847)。

摘　　要：目的分析东北地区汉族Kennedy病患者的临床及遗传学特点.方法收集11个家系的18例临床表现符合Kennedy病的患者,对其X染色体上的雄激素受体基因1号外显子CAG序列重复数目进行测定,归纳其临床症状、心肌酶等血生化检验及神经电生理检查的特点,并对其临床表型与遗传学之间的关联进行分析.结果18例Kennedy病患者均为男性,CAG序列平均重复次数为(48.50±3.21)次.14例下肢起病,3例四肢同时起病,1例下肢与球部肌肉同时起病.6例出现面肌颤搐的症状,7例男性乳房发育,2例Babinski征阳性.18例患者血清肌酸激酶(CK)均有不同程度的增高,60%血清甘油三酯(TG)高于正常值,33.3%雌二醇水平增高,33.3%雌二醇水平降低,所有受试者睾酮水平均在正常范围内.肌电图均提示存在神经源性损害,该研究患者CAG序列重复数目与发病年龄呈显著负相关,与病情的严重程度及血清CK无关.结论Kennedy病为X连锁隐性遗传,男性发病,中年起病,缓慢进展,需与运动神经元病相鉴别.临床表型存在异质性,发病年龄与CAG序列重复次数呈负相关.Objective To analysis the clinical and genetic features of Kennedy’s disease in the northeast of China.Methods 18 identified Chinese patients with Kennedy5 s disease from 11 families were collected.Genetic analysis was used to sequence the number of CAG repeats in the exon 1 of androgen receptor gene from peripheral blood.The clinical manifestations,serum creatine kinase(CK)and EMG were summarized to analysis the clinical and genetic features of Kennedy,s disease.Results All 18 patients were male.The average number of CAG repeats was(48.50±3.21).14 patients started with weakness of the lower limbs,3 patients started from upper and lower extremities and 1 patient started from both lower limbs and bulbar.Furthermore,6 patients were manifested with facial fasciculation,and 7 patients with gynecomastia.Moreover,2 had a positive Babinski sign unexpectedly.The CK level in all 18 patients and TG level in 60%patients were elevated.The estradiol level in 33.3%patients was elevated,but in another 33.3%patients was reduced.In addition,the testosterone level in all 18 patients was normal.Electromyography examination suggested chronic neurogenic changes in the upper and lower extremities.There was an inverse correlation between the number of CAG repeats and the age at onset.However,The CK level and the severity of disease had no correlation with the number of CAG repeats.Conclusion Kennedy’s disease is an X-linked recessive inheritance,late onset and slowly progressive neuromuscular disorder.All patients of Kennedy5 s disease were male.The clinical phenotype was heterogeneous,and CAG repeat length inversely correlates with the age of symptom onset but not with the rate of disease progression.

关 键 词：Kennedy病 基因检测 雄激素受体基因 CAG序列重复数目 

分 类 号：R746[医药卫生—神经病学与精神病学]