遗传性纤维蛋白原Aα链淀粉样变1例报道及文献复习

Hereditary fibrinogen Aα-chain amyloidosis caused by the E526V mutation: a case report and literature review

纤维蛋白原Aα链淀粉样变是遗传性淀粉样变常见的类型之一,其肾组织病理改变具有显著特征,表现为仅有肾小球受累,严重者可见正常肾小球结构消失,代之以大量的淀粉样物质沉积,肾血管以及肾小管间质无淀粉样物质沉积。本文报道了中国首例突变基因型为p.Glu526Val的遗传性纤维蛋白原Aα链淀粉样变患者,为中年男性,临床表现蛋白尿、高血压、肾功能不全,未见肾外受累的表现。

SUMMARY Mutations in the fibrinogen Aα-chain genes are the most common cause of hereditary renal amyloidosis. The renal histologic appearance in the patient is characteristic and shows striking glomerular enlargement with almost complete obliteration of the normal glomerular architecture by extensive amyloid deposition. In contrast,the vessels and renal tubular interstitium of such patient contains almost no amyloid at all. Here,we described a patient with hereditary fibrinogen amyloidosis,who presented with proteinuria,hypertension and renal failure. He was shown to be heterozygous for the relevant mutation encoding the E526 V fibrinogen variant.