本文選題：肯尼迪病　切入點(diǎn)：基因診斷　出處：《中風(fēng)與神經(jīng)疾病雜志》2017年09期

【摘要】：目的探討肯尼迪病(Kennedy’s disease,KD)患者的臨床特征和基因特點(diǎn),以加強(qiáng)對(duì)KD的認(rèn)識(shí),減少誤診漏診率。方法納入2013年1月~2017年4月廣州軍區(qū)廣州總醫(yī)院神經(jīng)內(nèi)科收治的8例經(jīng)基因確診的KD患者,分析其臨床特征、實(shí)驗(yàn)室檢查、肌電圖、神經(jīng)電圖和基因特點(diǎn),使用肌萎縮側(cè)索硬化癥評(píng)分量表(amyotrophic lateral sclerosis rating scale,ALSFRS)作為運(yùn)動(dòng)功能量表進(jìn)行病情評(píng)估,分析臨床特征及其與CAG重復(fù)序列數(shù)目的關(guān)系。結(jié)果所有患者均為成人發(fā)病,平均年齡為(36.63±4.14)歲,確診病程平均為(12.13±3.44)y,均表現(xiàn)為四肢無(wú)力和肌肉萎縮,6例出現(xiàn)舌肌萎縮和構(gòu)音障礙、肢體震顫、口周面肌束顫,4例性功能下降,6例乳腺發(fā)育。實(shí)驗(yàn)室檢查結(jié)果 7例肌酸激酶(creatine kinase,CK)增高,8例甘油三酯增高,6例尿酸增高,2例睪酮增高。肌電圖提示所有患者均表現(xiàn)為廣泛神經(jīng)源性損害,運(yùn)動(dòng)神經(jīng)和感覺(jué)神經(jīng)動(dòng)作電位波幅降低,部分神經(jīng)傳導(dǎo)速度下降。AR基因CAG重復(fù)序列的重復(fù)次數(shù)為44~58次,CAG拷貝數(shù)與發(fā)病年齡呈負(fù)相關(guān)(r=-0.753,P=0.031),與ALSFRS評(píng)分呈負(fù)相關(guān)(r=-0.733,P=0.039),與CK水平無(wú)關(guān)(r=0.250,P=0.550)。結(jié)論 KD的臨床特點(diǎn)為緩慢進(jìn)展的延髓和脊髓肌肉萎縮無(wú)力,伴有肢體震顫、面肌束顫,部分可有內(nèi)分泌功能及代謝紊亂。CAG拷貝數(shù)越多,則發(fā)病年齡越早,運(yùn)動(dòng)功能評(píng)分越低。CAG拷貝數(shù)可作為KD病情的預(yù)測(cè)指標(biāo)。
[Abstract]:Objective to investigate the clinical and genetic characteristics of patients with Kennedy disease (KD) in order to enhance the understanding of KD and reduce the misdiagnosis and missed diagnosis rate.Methods from January 2013 to April 2017, 8 patients with KD diagnosed by gene were included in the Department of Neurology, Guangzhou General Hospital of Guangzhou military region, Guangzhou military region. The clinical features, laboratory examination, electromyogram, electromyogram and gene characteristics were analyzed.The amyotrophic lateral sclerosis rating scalescale (ALSFRSs) was used as the motor function scale to evaluate the condition of patients with amyotrophic lateral sclerosis. The clinical features and the relationship between the clinical features and the number of CAG repeat sequences were analyzed.Results all the patients were diagnosed as adults with an average age of 36.63 鹵4.14 years. The average course of confirmed disease was 12.13 鹵3.44 yrs. All the patients showed weakness of limbs and muscular atrophy, and 6 cases had tongue muscle atrophy and dysarthria, and limb tremor.There were 4 cases of sexual dysfunction and 6 cases of mammary gland development.The results of laboratory examination showed that creatine kinase kinase (CK) was increased in 7 cases, triglyceride in 8 cases and uric acid in 6 cases and testosterone in 2 cases.Electromyography showed extensive neurogenic damage and decreased amplitude of action potential of motor and sensory nerves in all patients.Conclusion the clinical features of KD are slow progressive muscular dystrophy of medulla oblongata and spinal cord, limb tremor, hemifacial fascicle fibrillation, and the more copies of partial endocrine function and metabolic disorder. CAG, the earlier the onset age is.The lower the motor function score, the lower the copy number of CAG can be used as a predictor of KD disease.
【作者單位】： 廣州軍區(qū)廣州總醫(yī)院神經(jīng)內(nèi)科;廣州軍區(qū)廣州總醫(yī)院癲癇科;廣州軍區(qū)廣州總醫(yī)院神經(jīng)外科;
【基金】：廣東省醫(yī)學(xué)科學(xué)技術(shù)研究基金項(xiàng)目(No.A2015084)
【分類(lèi)號(hào)】：R746

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本文編號(hào)：1721239