de Carvalho Mamede, Linke Reinhold P, Domingos Fernando, Evangelista Teresinha, Ducla-Soares José Luís, Nathrath Walter B J, Azevedo-Coutinho Conceição, Lima Raquel, Saraiva Maria João
Department of Neurology, Hospital de Santa Maria, Lisbon, Portugal.
Amyloid. 2004 Sep;11(3):200-7. doi: 10.1080/13506120400000772.
A middle age Portuguese woman was investigated for renal amyloidosis. She presented with progressive renal failure, proteinuria, hypertension, and sensory symptoms in the feet. Clinical and neurophysiological evaluation disclosed sensory-autonomic neuropathy. Cardiovascular tests and 123-MIBG investigation showed parasympathetic dysfunction and decrease of myocardial innervation, in accordance with small fiber neuropathy, as usually observed in amyloidosis. Immunohistochemical studies revealed AFib amyloidosis and genetic studies the amino acid exchange Glu526Val of the fibrinogen Aalpha-chain mutation, which was also present in one of her sons. The mutant gene in this patient was associated with the same haplotype as all other reported cases of Glu526Val mutations. This is the first reported AFibamyloidosis in Portugal, and the first case of AFib in which sensory and autonomic nerve fiber dysfunction is described, indicating that small nerve fiber lesion can occur in the fibrinogen Aalpha chain mutation. This can be important for prognosis, in particular when liver transplantation is considered for treatment.
一名中年葡萄牙女性因肾淀粉样变性接受检查。她出现进行性肾衰竭、蛋白尿、高血压以及足部感觉症状。临床和神经生理学评估发现感觉自主神经病变。心血管检查和123-MIBG检查显示副交感神经功能障碍和心肌去神经支配减少，这与淀粉样变性中通常观察到的小纤维神经病变一致。免疫组织化学研究显示为AFib淀粉样变性，基因研究发现纤维蛋白原Aα链突变的氨基酸交换Glu526Val，她的一个儿子也存在该突变。该患者的突变基因与所有其他报道的Glu526Val突变病例具有相同的单倍型。这是葡萄牙首次报道的AFib淀粉样变性，也是首例描述感觉和自主神经纤维功能障碍的AFib病例，表明在纤维蛋白原Aα链突变中可发生小神经纤维病变。这对预后可能很重要，尤其是在考虑肝移植治疗时。
