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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 histopathological features of familial amyloid polyneuropathy (FAP). Methods The clinical manifestations and pathological changes of Met30FAP1 cases, pathological anatomy and the results of HE, methyl violet, Congo red, Masson and Loyez hematoxylin were reviewed. Results The initial symptoms were lower extremity polyneuropathy and gastrointestinal autonomic dysfunction. Severe orthostatic hypotension and progressive malnutrition occurred after 2 years, with retention of urine and urine. After 4 years, liver function and cardiac structure were abnormal. After 7 years, Depth of sensory disturbances and myocardial infarction and persistent pulmonary infection, and eventually died of multiple organ failure. Histopathological examination revealed a large amount of amyloid deposition in the digestive system, respiratory system, endocrine gland, genitourinary system, muscle, cardiovascular system, skin, peripheral nerves and medulla oblongata, Irregular shape diffuse distribution. Conclusions Amyloidosis in FAP affects all systemic systems. Polyneuropathy is only one of its many manifestations.