转甲状腺素蛋白相关家族性淀粉样多发性神经病的临床特征(附2例报告)  

Clinical characteristics of familial amyloid polyneuropathy associated with Val30Met and Ala117Ser mutations in transthyretin(report of two cases)

作　　者：杨军霞 田田[1] 马兴荣[1] YANG Junxia;TIAN Tian;MA Xingrong(Department of Neurology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450000,China)

机构地区：[1]郑州大学第一附属医院神经内一科,450000

出　　处：《临床神经病学杂志》2024年第3期208-212,共5页Journal of Clinical Neurology

基　　金：国家自然科学基金项目(U1804171)。

摘　　要：目的探讨我国内地Val30Met和Ala117Ser突变致转甲状腺素蛋白相关家族性淀粉样多发性神经病(TTR-FAP)的临床特征。方法回顾Val30Met突变和Ala117Ser突变所致TTR-FAP患者的临床资料各1例,并对中国内地这两类突变患者的临床特征进行归纳。。结果病例1为Val30Met突变,主要表现为周围神经功能障碍,病例2为Ala117Ser突变,周围神经、心脏循环和眼部症状均明显。服用氯苯唑酸8个月后随访病例1症状无加重,病例2有加重。回顾47例中国内地Val30Met和Ala117Ser突变TTR-FAP,Val30Met突变集中于我国北方,Ala117Ser突变主要位于南方。Ala117Ser突变累及心脏、呼吸系统和听力的比例明显高于Val30Met突变。结论中国内地TTR-FAP具有遗传异质性,分布有地域特点,确诊病程可能与治疗效果有关。Objective To investigate the clinical features of Chinese mainland familial amyloid polyneuropathy with Val30Met and Ala117Ser mutations in transthyretin(TTR-FAP).Methods The clinical data of one case of TTR-FAP caused by Val30Met mutation and one case caused by Ala117Ser mutation were reviewed,and the clinical characteristics of these two types of mutations in China's Mainland were summarized.Results Case 1 was Val30Met mutation,which was mainly manifested as peripheral nerve dysfunction,case 2 was Ala117Ser mutation,and the symptoms of peripheral nerve,cardiac circulation and eye were obvious.After taking chlorobenzoic acid for 8 months,the symptoms of case 1 were not aggravated,but those of case 2 were aggravated.A total of 47 cases of Chinese mainland Val30Met and Ala117Ser gene mutation TTR-FAP were reviewed.The Val30Met mutation was concentrated in the north of China,and the Ala117Ser mutation was mainly in the south of China.The proportions of heart,respiratory system and hearing involved by Ala117Ser mutation was significantly higher than those of Val30Met mutation.Conclusion Chinese mainland TTR-FAP has genetic heterogeneity and regional distribution,and the confirmed course of disease may be related to the effect of treatment.

关 键 词：转甲状腺素蛋白淀粉样变 Val30Met突变 Ala117Ser突变 周围神经病变 

分 类 号：R741[医药卫生—神经病学与精神病学]