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点(附1例报告)  

Clinical features of transthyretin familial amyloid polyneuropathy(report of one case)

作　　者：吴迪[1] 葛剑青[1] WU Di;GE Jianqing(Department of Neurology,Brain Hospital Affiliated to Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学附属脑科医院神经内科,210029

出　　处：《临床神经病学杂志》2022年第4期301-303,共3页Journal of Clinical Neurology

摘　　要：目的 探讨转甲状腺素蛋白(TTR)基因突变引起的转甲状腺素蛋白相关家族性淀粉样多发性神经病(TTR-FAP)的临床特点。方法 回顾性分析1例TTR-FAP患者的临床资料,并进行文献复习。结果 本例为66岁男性,首发症状为反复腹泻及性功能障碍,随后出现四肢远端麻木无力,伴有心脏、肾脏、声带等多器官受累。基因分析示TTR基因外显子4杂合致病突变TTR c.349G>T p.Ala117Ser。结论 TTR-FAP可出现神经系统、心脏、眼、肾脏等多系统受累的临床表现,需结合组织活检和基因检测进行诊断。Objective To investigate the clinical features of transthyretin familial amyloid polyneuropathy(TTR-FAP) caused by transthyretin(TTR) gene mutation.Methods Clinical data of a patient with TTR-FAP was retrospectively analyzed,and the literatures on the TTR-FAP cases were reviewed.Results The patient was a 66-year-old male.The initial symptoms were recurrent diarrhea and sexual dysfunction,followed by numbness and weakness in the distal extremities,accompanied by involvement of multiple organs such as heart,kidney and vocal cords.Analysis of TTR gene indicated that heterozygous pathogenic mutation TTR c.349 G>T p.Ala117 Ser was detected in exon 4 of the gene.Conclusion TTR-FAP may involve multiple systems such as nervous system,heart,eye and kidney,and should be diagnosed in combination with tissue biopsy and genetic testing.

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：R745[医药卫生—神经病学与精神病学]