Kennedy病一家系的临床特点及雄激素受体基因突变分析  

Clinical Features and Androgen Receptor Gene Mutation in a Kennedy Disease Pedigree

作　　者：王子高[1] 赵永飞[1] 王冠群[1] 黄永妹 祖衡兵[1] 

机构地区：[1]复旦大学附属金山医院神经科,201508

出　　处：《中国临床神经科学》2015年第1期51-58,共8页Chinese Journal of Clinical Neurosciences

摘　　要：目的探讨Kennedy病(KD)的临床表现及基因突变特点。方法对一KD家系进行详细的临床检查,总结所有患者的临床表现,并对雄激素受体(AR)基因1号外显子CAG序列重复数进行检测。结果该家系中有3例患者,均为男性。2例以下肢无力起病,1例以乳房发育为首发症状。3例患者均存在脊髓及延髓肌群肌无力萎缩、乳房女性化及性功能减退,血清肌酸激酶及雌二醇水平增高。肌电图均显示慢性神经源性损害,运动合并感觉神经受累。AR基因1号外显子中CAG重复次数分别为49、50及48次。结论 KD的临床表型具有多态性,致病基因具有遗传不稳定性。Aim To investigate the clinical features and genetic characteristics of a pedigree with Kennedy disease（KD）.Methods The clinical data,laboratory examinations of the patients from a KD family were collected.The number of CAG repeats in exon 1 of the androgen receptor（AR） gene was determined by PCR and DNA sequencing.Results Three male patients with KD were identified in the family.Initial symptom was weakness of legs in two patients,and gynecomastia in the other one.All three patients presented with progressive proximal weakness and atrophy in the limbs,bulbar paralysis,gynecomastia and impotence.Palmomental reflex was positive in one patient.Both the levels of serum creatine phosphokinase and estradiol increased.Electromyography showed chronic neuronal damage.The number of CAG repeat expansion in AR gene was 49,50,and 48,respectively.Conclusion KD shows polymorphic in clinical phenotype,which is characterized by weakness and wasting of limbs and bulbar muscles,sensory disturbances,and androgen insensitivity.Genetic instability is another important feature of KD.

关 键 词：Kennedy病 临床特点 肌电图 雄激素受体 动态突变 基因突变 

分 类 号：R746.4[医药卫生—神经病学与精神病学]