转甲状腺素蛋白淀粉样变性多发性神经病1例诊治体会  

Diagnosis and treatment experience of a case of transthyretin amyloid polyneuropathy

作　　者：马玉秀 程坤[2] 王亚茹 凌泽法 王凯 杜文祯 刘红[2] Ma Yuxiu;Cheng Kun;Wang Yaru;Ling Zefa;Wang Kai;Du Wenzhen;Liu Hong(Changzhi Medical College,Changzhi,Shanxi,046000,China;Neurology Department,Heping Hospital Affiliated to Changzhi Medical College,Changzhi,Shanxi,046000,China)

机构地区：[1]长治医学院,山西长治046000 [2]长治医学院附属和平医院神经内科,山西长治046000

出　　处：《齐齐哈尔医学院学报》2024年第5期448-452,共5页Journal of Qiqihar Medical University

摘　　要：转甲状腺素蛋白淀粉样变性多发性神经病(transthyretin amyloid polyneuropathy,ATTR-PN)是由编码转甲状腺素蛋白的TTR基因致病变异导致的一种以周围神经损害为主,呈常染色体显性遗传的多系统疾病。本文报道1例ATTR-PN,希望提高临床医生对此病的认识,减少误诊率。Transthyretin amyloid polyneuropathy(ATTR-PN)is a kind of multi-system disease,which is caused by the mutation of TTR gene that encoding transthyretin and mainly characteristic by peripheral nerve damage and presents autosomal dominant inheritance.This paper reports a case of ATTR-PN,hoping to improve the clinician's understanding of this disease and reduce the misdiagnosis rate.

关 键 词：转甲状腺素蛋白淀粉样变性多发性神经病(ATTR-PN) 限制性心肌病 自主神经功能障碍 TTR基因 

分 类 号：R741[医药卫生—神经病学与精神病学]