CAJ | 학술논문

目的分析27例肯尼迪病患者的临床特征,以加强对该病的认识.方法收集基因确诊的27例肯尼迪病患者的临床资料,分析其临床特点及血清性激素及各生化指标水平.结果肯尼迪病患者均中年发病,进展缓慢.神经系统表现为以肢体和延髓部受累为主的下运动神经元瘫痪.运动功能损害较轻,运动功能损害程度与疾病病程相关(r=0.77,P=0.000).虽然血清性激素水平正常,但部分患者可出现男性乳腺发育或性功能减退等雄性激素功能低下症状.患者的肌酸激酶[(920.10±495.54)U/L]、甘油三酯[(3.27±2.78)mmol/L]轻度增高,与健康者均值(107.20 U/L,1.40 mmol/L)相比差异有统计学意义(t=7.517,P=0.000;t=2.687,P=0.017).结论我国肯尼迪病患者的临床特征与国外文献报道基本一致,但也有一些独特之处,如血清甘油三酯水平增高等.
목적 분석27례긍니적병환자적림상특정,이가강대해병적인식.방법 수집기인학진적27례긍니적병환자적림상자료,분석기림상특점급혈청성격소급각생화지표수평.결과 긍니적병환자균중년발병,진전완만.신경계통표현위이지체화연수부수루위주적하운동신경원탄탄.운동공능손해교경,운동공능손해정도여질병병정상관(r=0.77,P=0.000).수연혈청성격소수평정상,단부분환자가출현남성유선발육혹성공능감퇴등웅성격소공능저하증상.환자적기산격매[(920.10±495.54)U/L]、감유삼지[(3.27±2.78)mmol/L]경도증고,여건강자균치(107.20 U/L,1.40 mmol/L)상비차이유통계학의의(t=7.517,P=0.000;t=2.687,P=0.017).결론 아국긍니적병환자적림상특정여국외문헌보도기본일치,단야유일사독특지처,여혈청감유삼지수평증고등.
Objective To analyze the clinical features of 27 Chinese patients with Kennedy's disease(KD), a sex-linked inheritance disorder. Methods We collected the clinical data of 27 KD patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones and biochemical indicators. Results Patients with spinal and bulhar muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. Part of the invalids presented signs of androgen insensitivity such as gynecomastia or reduced sexual function, even though their degrees of sex hormones were normal. There was mild motor functional lesion which correlated with the course of the disease ( r = 0. 77, P = 0. 000). The degrees of creatine kinase ( ( 920. 10 ± 495.54 ) U/L ) and triglyceride ( ( 3.27 ± 2. 78) mmool/L) increased mildly and was significantly different from the levels of healthy ones (107.20 U/L,t =7.517,P =0.000;1.40 mmol/L, t =2.687,P =0.017). Conclusions Basically, Chinese KD patients present the same clinical features as the literature reports, however they have distinctive aspects such as elevated degree of triglyceride. The present research can help us to understand the features of Chinese KD more particularly.