转甲状腺素蛋白基因Ala117Ser突变所致家族性淀粉样多发性神经病一例并文献复习  

Familial amyloid polyneuropathy caused by transthyretin Ala117Ser mutation:a case report and literature review

作　　者：何饶丽 潘晓东[1] 张健[1] 陈滢[1] 叶钦勇[1] 陈晓春[2] He Raoli;Pan Xiaodong;Zhang Jian;Chen Ying;Ye Qinyong;Chen Xiaochun(Department of Neurology,Fujian Medical University Union Hospital,Fuzhou 350001,China;Fujian Medical University,Fuzhou 350004,China)

机构地区：[1]福建医科大学附属协和医院神经内科,福州350001 [2]福建医科大学,福州350004

出　　处：《中华神经科杂志》2021年第8期816-821,共6页Chinese Journal of Neurology

基　　金：福建医科大学启航基金项目(2017XQ1033);福建省卫生计生科研人才培养项目(青年科研课题)(2018-1-41);中央引导地方科技发展专项(2019L301)。

摘　　要：目的探讨转甲状腺素蛋白基因Ala117Ser突变引起的家族性淀粉样多发性神经病(FAP)患者的临床表现,提高临床上对FAP的识别水平。方法分析1例2014年11月25日就诊福建医科大学附属协和医院的FAP患者的临床表现、电生理检查、病理及基因突变特点,并结合文献所报道的Ala117Ser突变型FAP病例进行复习、总结。结果本患者为59岁福建籍男性,首发症状为四肢远端麻木,随后出现明显的自主神经症状、运动障碍,疾病后期出现致死性心功能障碍,皮肤活组织检查可见淀粉样病变,转甲状腺素蛋白基因分析提示c.349G>T p.Ala117Ser突变。文献报道的Ala117Ser突变所致FAP的临床表现与本例基本一致,且国内报道的FAP病例集中在福建、广东等南部地区。结论Ala117Ser突变引起的FAP患者分布具有显著的地域特点,通常起病较晚,临床表现为多发性感觉运动周围神经病,多伴有突出的自主神经症状。组织病理和基因检测对于FAP的临床诊断有重要意义。Objective To investigate the clinical manifestations of familial amyloid multiple neuropathy(FAP)caused by Ala117Ser mutation,and to improve the clinical recognition of FAP.Methods The clinical manifestations,electrophysiological examination,pathology and gene mutation characteristics of a case of FAP,who admitted to Fujian Medical University Union Hospital on November 25,2014,were analyzed,and the literatures on the FAP cases caused by Ala117Ser mutation were reviewed and summarized.Results The patient was a 59-year-old male from Fujian province.The first symptom was numbness in the extremities,followed by obvious autonomic nerve symptoms and motor disorder,and fatal cardiac dysfunction occurred in the later stage of the disease.The skin biopsy showed amyloidosis,and transthyretin gene analysis indicated the mutation of c.349G>T p.Ala117Ser.The clinical manifestations of FAP caused by Ala117Ser mutation reported in literatures are consistent with this case.And the reported FAP cases in China are concentrated in southern regions such as Fujian Province and Guangdong Province.Conclusions Ala117Ser mutation in FAP patients is usually late onset and clinically manifested as multiple sensorimotor peripheral neuropathy,accompanied by prominent autonomic symptoms.The distribution of the patients has significant regional characteristics.Histopathological and genetic tests for the clinical diagnosis are of great significance.

关 键 词：家族性淀粉样多发性神经病 转甲状腺素蛋白 Ala117Ser突变 

分 类 号：R741[医药卫生—神经病学与精神病学]