Di Iorio G, Sanges G, Cerracchio A, Sampaolo S, Sannino V, Bonavita V
Istituto di Scienze Neurologiche, Facoltà di Medicina e Chirurgia, Università di Napoli.
Ital J Neurol Sci. 1993 May;14(4):303-9. doi: 10.1007/BF02339296.
Familial amyloidotic polyneuropathy (FAP) is a heterogeneous group of genetic disorders characterized by progressive systemic deposition of extracellular amyloid fibrils, mainly affecting the peripheral nervous system (PNS). These disorders, inherited as an autosomal dominant trait, have frequently been described in various ethnic groups, but have rarely been reported in Italy. A 42 year-old man came to our observation for loss of pain and temperature sense in his legs. Clinical and laboratory data pointed to an amyloidotic polyneuropathy. This led us to discover a large italian kindred in which 19 members were affected by FAP. The diagnosis, established in 8 members on the clinical and laboratory findings, was ana-catamnestic in other 11. In this kindred the onset of the disease ranges from 35 to 50 years of age and the course is progressive and often fatal. The early symptoms are mainly related to autonomic disturbances and to peripheral neuropathy. Cardiac and renal involvement occurs frequently and may be life-threatening.
家族性淀粉样多神经病（FAP）是一组异质性遗传疾病，其特征是细胞外淀粉样纤维在全身进行性沉积，主要影响周围神经系统（PNS）。这些疾病以常染色体显性性状遗传，在各个种族中均有频繁报道，但在意大利却鲜有报告。一名42岁男性因腿部痛觉和温度觉丧失前来就诊。临床和实验室数据指向淀粉样多神经病。这使我们发现了一个庞大的意大利家族，其中19名成员患有FAP。根据临床和实验室检查结果，8名成员得以确诊，另外11名成员通过回顾性诊断确诊。在这个家族中，疾病发病年龄在35至50岁之间，病程呈进行性且往往致命。早期症状主要与自主神经功能紊乱和周围神经病变有关。心脏和肾脏受累很常见，可能危及生命。
