Grateau G
Service de médecine interne, L'Hôtel-Dieu, Paris.
Rev Prat. 1997 Oct 15;47(16):1783-6.
Clinical aspects of hereditary amyloidoses are very diverse, and they pose many diagnostic problems to the physician. Biochemical and genetic aspects are also various. Several proteins are implicated in these hereditary diseases: transthyretin, apolipoprotein A1, gelsolin, fibrinogen alpha chain and lysozyme. Studies on structural changes induced by the mutations in these proteins should bring new data relevant to our understanding of the amyloidogenic process. Familial mediterranean fever is a hereditary disease of the inflammatory reaction which is associated with AA amyloidosis.
遗传性淀粉样变性的临床症状多种多样,给医生带来了许多诊断难题。其生化和遗传方面也各不相同。有几种蛋白质与这些遗传性疾病有关:转甲状腺素蛋白、载脂蛋白A1、凝溶胶蛋白、纤维蛋白原α链和溶菌酶。对这些蛋白质突变引起的结构变化的研究应能带来与我们对淀粉样变过程理解相关的新数据。家族性地中海热是一种与AA型淀粉样变性相关的炎症反应遗传性疾病。