肯尼迪病5例临床特征分析并文献复习-东南大学学报医学版

肯尼迪病5例临床特征分析并文献复习

单位：1. 徐州医科大学研究生院, 江苏徐州 221004;
2. 徐州医科大学附属医院心内科, 江苏徐州 221002;
3. 南京市第一医院, 江苏南京 210012;
4. 徐州医科大学附属医院神经内科, 江苏徐州 221002

分类号：R74

出版年·卷·期（页码）：2022·41·第三期（433-438）

摘要：

目的：分析肯尼迪病（Kennedy's disease，KD）患者的临床资料，探讨KD的临床特点，加强对此病的认识。方法：收集5例经基因检测确诊KD患者的病史、体格检查以及辅助检查等资料，结合既往文献对其临床特征进行归纳、总结。结果：5例患者均出现言语不清、肉跳、肢体和舌肌无力、萎缩等下运动神经元损害症状，均伴有乳房增大、手部震颤等表现；所有患者肌酸激酶水平均升高，4例患者肌酐水平降低，4例患者性激素水平异常，部分患者伴有血脂及糖化血红蛋白水平升高；所有患者的肌电图检查均提示神经源性损害，存在运动和感觉神经受累，其中2例患者高频重复电刺激可见递减。结论：KD是一种多系统受累疾病，以缓慢进展的言语不清，肌束震颤，脊髓及延髓支配肌肉无力、萎缩以及手部震颤为主要表现，可伴有男性乳房女性化、性激素紊乱以及糖化血红蛋白、血脂异常等内分泌及代谢系统紊乱表现；肌酸激酶、肌酐为潜在的生物学标志物；肌电图呈神经源性损害，感觉神经受损更显著。

Objective: To investigate the clinical characteristics of Kennedy's disease(KD) by analysing the clinical data, and increase awareness of the disense. Methods: The case history, physical examination and auxiliary examination data of 5 KD patients confirmed by gene testing were collected, and their clinical characteristics were summarized based on previous literatures. Results: All 5 patients showed dysarthria, muscle jumping, limb and tongue muscle weakness, atrophy and other lower motor neuron damage symptoms, accompanied by gynecomastia, hand tremor and other manifestations. Creatine kinase levels were increased in all patients, creatinine levels were decreased in 4 patients, sex hormone levels were abnormal in 4 patients, and blood lipid and glycosylated hemoglobin levels were increased in some patients. Electrophysiological examination showed neurogenic damage with motor and sensory nerve involvement, and high frequency repetitive electrical stimulation decreased in 2 patients. Conclusion: KD is a multi-system involved disease, with the main manifestations of slowly progressive dysarthria, muscle bundle tremor, weakness and atrophy of the muscles innervated by the spinal cord and medulla oblongata, as well as hand tremor. It can be accompanied by the endocrine and metabolic system disorders such as gynecomastia, sex hormone disorders, glycosylated hemoglobin and dyslipidemia. Creatine kinase and creatinine are potential biological markers. Sensory nerve damage is more significant than motor nerve.

参考文献：

[1] MANZANO R,SORAR G,GRUNSEICH C,et al.Beyond motor neurons:expanding the clinical spectrum in Kennedy's disease[J].J Neurol Neurosurg Psychiatry,2018,89(8):808-812.
[2] KENNEDY W R,ALTER M,SUNG J H.Progressive proximal spinal and bulbar muscular atrophy of late onset.A sex-linked recessive trait[J].Neurology,1968,18(7):671-680.
[3] LA SPADA A R,WILSON E M,LUBAHN D B,et al.Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy[J].Nature,1991,352(6330):77-79.
[4] GRUNSEICH C,RINALDI C,FISCHBECK K H.Spinal and bulbar muscular atrophy:pathogenesis and clinical management[J].Oral Dis,2014,20(1):6-9.
[5] BREZA M,KOUTSIS G.Kennedy's disease(spinal and bulbar muscular atrophy):a clinically oriented review of a rare disease[J].J Neurol,2019,266(3):565-573.
[6] LIEBERMAN A P,SHAKKOTTAI V G,ALBIN R L.Polyglutamine repeats in neurodegenerative diseases[J].Annu Rev Pathol,2019,14:1-27.
[7] 徐迎胜,张朔,樊东升.三重刺激技术对肯尼迪病上运动神经元损害的检测[J].中华医学杂志,2015,95(19):1522-1525.
[8] FINSTERER J,SORARU G.Onset manifestations of spinal and bulbar muscular atrophy(Kennedy's disease)[J].J Mol Neurosci,2016,58(3):321-329.
[9] PRADAT P F,BERNARD E,CORCIA P,et al.The French national protocol for Kennedy's disease(SBMA):consensus diagnostic and management recommendations[J].Orphanet J Rare Dis,2020,15(1):90.
[10] FERNÁNDEZ-RHODES L E,KOKKINIS A D,WHITE M J,et al.Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy:a randomised placebo-controlled trial[J].Lancet Neurol,2011,10(2):140-147.
[11] LEE J H,SHIN J H,PARK K P,et al.Phenotypic variability in Kennedy's disease:implication of the early diagnostic features[J].Acta Neurol Scand,2005,112(1):57-63.
[12] DEJAGER S,BRY-GAUILLARD H,BRUCKERT E,et al.A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length[J].J Clin Endocrinol Metab,2002,87(8):3893-3901.
[13] CHAHIN N,SORENSON E J.Serum creatine kinase levels in spinobulbar muscular atrophy and amyotrophic lateral sclerosis[J].Muscle Nerve,2009,40(1):126-129.
[14] QUERIN G,BERTOLIN C,DA RE E,et al.Non-neural phenotype of spinal and bulbar muscular atrophy:results from a large cohort of Italian patients[J].J Neurol Neurosurg Psychiatry,2016,87(8):810-816.
[15] HASHIZUME A,KATSUNO M,BANNO H,et al.Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy[J].Brain,2012,135(Pt 9):2838-2848.
[16] WYSS M,KADDURAH-DAOUK R.Creatine and creatinine metabolism[J].Physiol Rev,2000,80(3):1107-1213.
[17] JOKELA M E,UDD B.Diagnostic clinical,electrodiagnostic and muscle pathology features of spinal and bulbar muscular atrophy[J].J Mol Neurosci,2016,58(3):330-334.
[18] 鲁明,张俊,郑菊阳,等.12例肯尼迪病患者肌电图和神经电图特点[J].中国神经免疫学和神经病学杂志,2008,15(3):187-189.
[19] HAMA T,HIRAYAMA M,HARA T,et al.Discrimination of spinal and bulbar muscular atrophy from amyotrophic lateral sclerosis using sensory nerve action potentials[J].Muscle Nerve,2012,45(2):169-174.

服务与反馈：

【文章下载】【发表评论】【查看评论】【加入收藏】

提示：您还未登录，请登录！点此登录