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  • 柴长凤,胡瑞红,刘振宇,毛晓薇,孙旭,毕晓莹.Kennedy病1例报告并系统性回顾国内研究情况[J].第二军医大学学报,2019,40(6):675-682    [点击复制]
  • CHAI Chang-feng,HU Rui-hong,LIU Zhen-yu,MAO Xiao-wei,SUN Xu,BI Xiao-ying.Kennedy disease: a case report and a systemic review of research in China[J].Acad J Sec Mil Med Univ,2019,40(6):675-682   [点击复制]
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Kennedy病1例报告并系统性回顾国内研究情况
柴长凤1,胡瑞红2,刘振宇1,毛晓薇1,孙旭1,毕晓莹1*
0
(1. 海军军医大学(第二军医大学)长海医院神经内科, 上海 200433;
2. 新疆喀什地区第一人民医院康复医学科, 喀什 844000
*通信作者)
摘要:
目的 报道1例经基因检测确诊的Kennedy病患者,并回顾文献总结我国Kennedy病的临床特征。方法 报道1例经基因检测确诊的Kennedy病患者的病历资料。然后分别在万方数据、中国知网数据库中,以"Kennedy病""肯尼迪病" "X连锁隐性遗传性脊髓延髓型肌萎缩"为关键词,检索并纳入2007年1月1日至2017年12月31日发表的文献63篇,包括本文报道1例患者共纳入Kennedy病患者170例,总结分析我国Kennedy病临床资料及生物化学指标。结果 170患者均为男性,6例未标明发病年龄,余164例患者的平均发病年龄为(39.12±10.21)岁,发病年龄集中在30~50岁,平均就诊年龄为(48.04±8.94)岁。对161例明确CAG重复序列数的患者进行Pearson相关性分析,结果显示发病年龄和CAG重复序列数呈负相关(r=-0.272,P=0.001)。170例Kennedy病患者中,最常见的首发症状是双下肢近端无力(93例,54.71%),其次是四肢无力(38例,22.35%)。随着病程的发展,93例(54.71%)患者出现乳房发育和(或)性功能下降,143例(84.12%)患者有舌部肌肉的萎缩和纤颤。所有患者神经系统体格检查均以下运动神经元体征为主,可见轻度的肌肉萎缩、束颤,肌力轻度减退且肢体近端更明显,腱反射减弱或消失。91.18%(155例)的患者肌酸激酶升高,部分患者合并了糖尿病、血脂升高、甲状腺功能异常和(或)肝功能轻至中度异常。结论 随着临床医师对Kennedy病的认识及国内基因检测的普遍开展,对疑似患者及早行基因检测可明确诊断,但目前尚无有效的治疗方法。
关键词:  Kennedy病  基因检测  临床表现  实验室检查
DOI:10.16781/j.0258-879x.2019.06.0675
投稿时间:2019-01-09修订日期:2019-02-22
基金项目:
Kennedy disease: a case report and a systemic review of research in China
CHAI Chang-feng1,HU Rui-hong2,LIU Zhen-yu1,MAO Xiao-wei1,SUN Xu1,BI Xiao-ying1*
(1. Department of Neurology, Changhai Hospital, Naval Medical University(Second Military Medical University), Shanghai 200433, China;
2. Department of Rehabilitation Medicine, The First People's Hospital of Kashgar, Kashgar 844000, Xinjiang Uygur Autonomous Region, China
*Corresponding author)
Abstract:
Objective To report a case of Kennedy disease confirmed by gene diagnosis and to retrospectively reviewed the clinical features of genetically-confirmed patients with Kennedy disease in China. Methods The clinical data of this patient from our hospital were collected. Two electronic databases (Wanfang Data and CNKI) were searched using keywords "Kennedy disease" and "X-linked recessive hereditary amyotrophy of spinal cord and medulla oblongata" from Jan. 2007 to Dec. 2017. And a total of 63 articles (170 cases) were finally identified, including one case reported by us. The clinical data and biochemical indicators of Kennedy disease in China were summarized and analyzed. Results All the 170 patients were male. The average age of onset was (39.12±10.21) years old in 164 patients with described age of onset, mainly ranging 30-50 years old, and the average age of treatment was (48.04±8.94) years. We also noticed that the age of onset was negatively correlated with the number of CAG repeats in 161 patients (r=-0.272, P=0.001). In 170 Kennedy disease patients, the most common symptoms were proximal weakness of the lower extremities (93 cases, 54.71%), followed by weakness of limbs (38 cases, 22.35%). With the progression of the disease, 93 (54.71%) patients had breast development and/or decreased sexual function; and 143 (84.12%) patients had atrophy and fibrillation of tongue muscles, but no obvious drinking water choking was found in the literature. The main signs of lower motor neuron were mild muscle atrophy, fascicular fibrillation, mild muscle degeneration, especially the proximal limb, with diminished or disappeared tendon reflex. We also noticed that 91.18% (155/170) of the patients had increased creatine kinase. Some patients had diabetes, elevated blood lipids, thyroid dysfunction and/or mild liver dysfunction. Conclusion The diagnosis of suspected Kennedy disease patients can be confirmed by genetic tests with the deep understanding of the disease by physicians and the popularization of genetic examination, although there have been no effective methods for treatment of Kennedy disease.
Key words:  Kennedy disease  gene determination  clinical presentation  laboratory examination