Familial amyloidotic polyneuropathy is an autosomal dominant amyloidosis, characterized by the systemic deposition of amyloid with a particular involvement of the peripheral nerves. The disease generally manifests as ...Familial amyloidotic polyneuropathy is an autosomal dominant amyloidosis, characterized by the systemic deposition of amyloid with a particular involvement of the peripheral nerves. The disease generally manifests as a severe sensory, mo tor and autonomic neuropathy. Cardiomyopathy, nephropathy, vitreous opacities and carpal tunnel syndrome may occur in a variable association with the neuropathy. Trophic dermatological lesions are frequent in the more advanced stages of the disease. We examined the skin of 142 patients. The cutaneous manifestations more frequently observed were: xerosis (81.6% ), seborrheic dermatitis (21.8% ), traumatic and burn lesions (19.7% ), acne (18.3% ), neurotrophic ulcers (14% ) and onychomycosis (10.5% ). Among the hepatic transplanted patients (31% ), seborrheic dermatitis and acne were the most frequent diagnoses.展开更多
目的分析Ser77Tyr突变所致转甲状腺素蛋白淀粉样变性多发性神经病(ATTR-PN)的临床特征。方法回顾性分析福建医科大学附属闽东医院神经内科收治的1例Ser77Tyr突变所致ATTR-PN患者的临床资料。检索并筛选Pubmed、Web of Science数据库及...目的分析Ser77Tyr突变所致转甲状腺素蛋白淀粉样变性多发性神经病(ATTR-PN)的临床特征。方法回顾性分析福建医科大学附属闽东医院神经内科收治的1例Ser77Tyr突变所致ATTR-PN患者的临床资料。检索并筛选Pubmed、Web of Science数据库及中国知网、万方数据库中关于Ser77Tyr突变所致ATTR-PN患者以及Pubmed、Web of Science数据库中关于Val30Met突变所致ATTR-PN患者的文献,提取患者的临床特征,汇总后比较Ser77Tyr、Val30Met突变所致ATTR-PN患者临床特征的差异。结果(1)收治患者的转甲状腺素蛋白(TTR)基因Sanger测序结果显示Ser77Tyr杂合致病性突变,刚果红染色患者发病2.5年时的胃窦活检标本显示淀粉样物质沉积。(2)最终汇总78例Ser77Tyr突变所致ATTR-PN患者,其多于50~60岁发病;男性发病率高(74.4%);多有阳性家族史(78.0%);首发症状以感觉障碍症状最常见(72.0%),数年内发展到周围神经广泛受累,同时合并普遍的心脏损害(96.4%);神经电生理检查示以轴索损害和腕管综合征表现为主;组织活检阳性率高(84.8%)。(3)汇总早发型、晚发型Val30Met突变所致ATTR-PN患者192例、96例。Ser77Tyr突变所致ATTR-PN患者深感觉障碍发生率(58.5%)高于早发型Val30Met突变所致ATTR-PN患者(28.6%),差异有统计学意义(P<0.05)。与晚发型Val30Met突变所致ATTR-PN患者比较,Ser77Tyr突变所致ATTR-PN患者浅感觉障碍发生率增高(56.3%vs.75.0%),肢体无力发生率降低(65.6%vs.48.3%),差异均有统计学意义(P<0.05)。Ser77Tyr突变所致ATTR-PN患者腕管综合征发生率(75.4%)高于早发型、晚发型Val30Met突变所致ATTR-PN患者(10.8%、25.0%),心脏损害发生率(96.4%)高于早发型Val30Met突变所致ATTR-PN患者(80.5%),差异均有统计学意义(P<0.05)。结论Ser77Tyr突变所致ATTR-PN患者具有一些相对独特的临床特征:大小纤维损害相对均衡、腕管综合征突出、心脏病变明显等,及早识别这些特征并完善活检和基因检测,有助于早期诊断。展开更多
文摘Familial amyloidotic polyneuropathy is an autosomal dominant amyloidosis, characterized by the systemic deposition of amyloid with a particular involvement of the peripheral nerves. The disease generally manifests as a severe sensory, mo tor and autonomic neuropathy. Cardiomyopathy, nephropathy, vitreous opacities and carpal tunnel syndrome may occur in a variable association with the neuropathy. Trophic dermatological lesions are frequent in the more advanced stages of the disease. We examined the skin of 142 patients. The cutaneous manifestations more frequently observed were: xerosis (81.6% ), seborrheic dermatitis (21.8% ), traumatic and burn lesions (19.7% ), acne (18.3% ), neurotrophic ulcers (14% ) and onychomycosis (10.5% ). Among the hepatic transplanted patients (31% ), seborrheic dermatitis and acne were the most frequent diagnoses.
文摘目的分析Ser77Tyr突变所致转甲状腺素蛋白淀粉样变性多发性神经病(ATTR-PN)的临床特征。方法回顾性分析福建医科大学附属闽东医院神经内科收治的1例Ser77Tyr突变所致ATTR-PN患者的临床资料。检索并筛选Pubmed、Web of Science数据库及中国知网、万方数据库中关于Ser77Tyr突变所致ATTR-PN患者以及Pubmed、Web of Science数据库中关于Val30Met突变所致ATTR-PN患者的文献,提取患者的临床特征,汇总后比较Ser77Tyr、Val30Met突变所致ATTR-PN患者临床特征的差异。结果(1)收治患者的转甲状腺素蛋白(TTR)基因Sanger测序结果显示Ser77Tyr杂合致病性突变,刚果红染色患者发病2.5年时的胃窦活检标本显示淀粉样物质沉积。(2)最终汇总78例Ser77Tyr突变所致ATTR-PN患者,其多于50~60岁发病;男性发病率高(74.4%);多有阳性家族史(78.0%);首发症状以感觉障碍症状最常见(72.0%),数年内发展到周围神经广泛受累,同时合并普遍的心脏损害(96.4%);神经电生理检查示以轴索损害和腕管综合征表现为主;组织活检阳性率高(84.8%)。(3)汇总早发型、晚发型Val30Met突变所致ATTR-PN患者192例、96例。Ser77Tyr突变所致ATTR-PN患者深感觉障碍发生率(58.5%)高于早发型Val30Met突变所致ATTR-PN患者(28.6%),差异有统计学意义(P<0.05)。与晚发型Val30Met突变所致ATTR-PN患者比较,Ser77Tyr突变所致ATTR-PN患者浅感觉障碍发生率增高(56.3%vs.75.0%),肢体无力发生率降低(65.6%vs.48.3%),差异均有统计学意义(P<0.05)。Ser77Tyr突变所致ATTR-PN患者腕管综合征发生率(75.4%)高于早发型、晚发型Val30Met突变所致ATTR-PN患者(10.8%、25.0%),心脏损害发生率(96.4%)高于早发型Val30Met突变所致ATTR-PN患者(80.5%),差异均有统计学意义(P<0.05)。结论Ser77Tyr突变所致ATTR-PN患者具有一些相对独特的临床特征:大小纤维损害相对均衡、腕管综合征突出、心脏病变明显等,及早识别这些特征并完善活检和基因检测,有助于早期诊断。
