家族性淀粉样变性多神经病1例的临床及尸检病理组织学分析  

Familial amyloid polyneuropathy:a clinicopathological and autopsy analysis

作　　者：李永军 鲁君泰 顾伏平 杨占林 赵桂华 

机构地区：[1]解放军513医院神经内科,甘肃兰州732750 [2]解放军513医院神病理科,甘肃兰州732750 [3]解放军513医院神经外科,甘肃兰州732750

出　　处：《总装备部医学学报》2011年第3期128-131,122,共5页Medical Journal of General Equipment Headquarters

摘　　要：目的探讨家族性淀粉样变性多神经病(FAP)的临床及病理组织学特点。方法回顾Met30FAP1例的全部临床表现及病情发展过程、系统病理解剖及HE、甲基紫、刚果红、Masson和Loyez苏木素染色结果。结果患者初发症状为下肢多神经病及胃肠自主神经功能障碍,2年后发生严重直立性低血压并进行性营养不良、大小便潴留,4年后肝功能及心脏结构异常,7年后全身深浅感觉障碍并发生心肌梗死及迁延性肺部感染,最终死于多器官功能衰竭。尸检病理组织学检查发现消化系统、呼吸系统、内分泌腺、泌尿生殖系统、肌肉、心血管系统、皮肤、周围神经及延髓等组织中均有大量淀粉样物质沉积,呈团片状、条状或不规则形弥漫分布。结论 FAP之淀粉样变性累及全身各系统,多神经病只是其众多表现之一。Objective To investigate the clinical and pathological features of the familial amyloid polyneuropathy(FAP).Methods The whole clinical course of a male patient suffering from FAP was reviewed;and systematic autopsy and pathological analysis were conducted after his death by using HE,methyl violet,Congo red,Masson,and Loyez hematoxylin stains.Results With first symptoms of lower limb polyneuropathy and gastrointestinal autonomic nerve dysfunction,severe orthostatic hypotension,progressive malnutrition and urinary and feces retention occurred in two years later.Four years later,abnormal liver function and cardiac structure emerged.Superficial and deep sensory disturbance of whole body,myocardial infarction and persistent pulmonary infection occurred and died of multiple organ failure in his seventh years of the illness.Large amount of amyloid deposition,diffusely and irregularly distributed or in massive or sheet pattern,were found in the the digestive system,respiratory system,endocrine,urinary and reproductive systems,muscles,cardiovascular system,skins,peripheral nervous system and medullary bulb.Conclusion FAP involves various systems in the body,and polyneuropathy is just one of its many manifestations.

关 键 词：家族性淀粉样变性多神经病 临床表现 病理组织学 

分 类 号：R745[医药卫生—神经病学与精神病学]