目的:探讨转甲状腺素蛋白相关家族性淀粉样变性周围神经病(TTR-FAP)的临床特征。方法:收集空军军医大学第一附属医院神经内科自2017年7月至2019年5月收治的4个TTR-FAP家系(包括20例TTR-FAP患者和2例无症状n TTR突变基因携带者)的临床资料，并对其中4例先证者的临床资料进行详细分析。n 结果:20例TTR-FAP患者的发病年龄为30~65岁，均以消化道症状为首发症状，存在不同程度的周围神经损害和体质量明显下降，以及心脏损害9例、体位性低血压9例、性功能障碍5例、排尿异常6例、瞳孔缩小或视物模糊3例，7例经n TTR基因检测确诊、3例经腓肠神经病理活检明确，接受二氟尼柳治疗1例、氯苯唑酸治疗2例(病情均进展)，死亡12例，存活8例。4例先证者均为男性，发病年龄平均49.3岁；均具有程度不等的感觉运动性周围神经病、自主神经病和心肌病表现；神经电生理检查提示长度依赖性的四肢感觉运动性周围神经病，以轴索损害为著；超声心动图示均有心肌肥厚；3例腓肠神经病理活检发现组织中刚果红染色均呈阳性；全外显子测序显示2例携带n TTR基因致病性突变(TTR-E74K、TTR-A140S)，1例携带可能致病性突变(TTR-S70R)。2例无症状n TTR突变基因携带者仍正常。n 结论:TTR-FAP在临床上表现为周围神经、自主神经持续进行性损害，同时累及多系统，尤其易合并消化道症状、心肌肥厚、体质量明显下降、瞳孔缩小或视物模糊，这些临床特征对该病的诊断有重要提示作用。“,”Objective:To explore the clinical manifestations of 4 pedigrees with transthyretin related familial amyloid polyneuropathy (TTR-FAP).Methods:The clinical data were collected and analyzed from 4 pedigrees with TTR-AFP, admitted to our hospital from July 2017 to May 2019; 20 patients and 2 asymptomatic carriers of the n TTR mutation gene were included. In particular, the detailed data of the 4 probands affected with TTR-FAP came from the 4 different pedigrees were collected.n Results:In these 20 patients, the age of onset ranged from 30 to 65; the first symptoms of diarrhea, constipation, alternating episodes of constipation and diarrhea were found; there were damaged peripheral nerve and inexplicable weight loss; cardiomyopathy was noted in 9 patients; orthostatic hypotension was noted in 9 patients, sexual dysfunction in 5, abnormal urination in 6, and blurred vision or corestenoma in 3. n TTR mutation gene was confirmed in 7 patients and pathological diagnosis was found in 3 patients. Diflunisal was used in one patient and tafamidis was used 2 patients. Twelve died and 8 patients survived among 20 patients with disease progression. All the 4 probands were male, with an average age of 49.3 years; all patients had different degrees of sensorimotor peripheral neuropathy, autonomic neuropathy and cardiomyopathy; electrophysiological examination suggested length dependent sensory motor peripheral neuropathy of the extremities, with axonal damage as the evidence; and cardiac hypertrophy was noted in echocardiography. The sural nerve biopsy of the 3 probands showed positive Congo red staining. Medical whole exon sequencing indicated that 2 probands had pathogenic mutations (TTR-E74K and TTR-A140S), and 1 proband had likely pathogenic mutation (TTR-S70R). Two asymptomatic carriers of the n TTR gene mutation remained normal condition.n Conclusion:The clinical manifestations of TTR-FAP include progressive sensorimotor and autonomic neuropathy, and multi-system disorders, such as combining with gastrointestinal problems, hypertrophic myocardium, inexplicable weight loss and blurred vision or corestenoma, which might be important reminders for diagnosis of TTR-FAP.