肾脏重链淀粉样变性

Heavy-chain amyloidosis

中年女性,临床表现蛋白尿、低白蛋白血症、高血压,肾功能正常,无贫血,血IgGκ型单克隆免疫球蛋白阳性,骨髓活检浆细胞异常增生。肾活检病理为肾淀粉样变性,同时,直肠和皮肤也存在淀粉样变性;免疫荧光肾小球、肾小管基膜、管周毛细血管IgG阳性,轻链、AA蛋白和其他遗传性淀粉样蛋白阴性。该患者最终诊断为γ重链淀粉样变性。

A 51 year old woman presented with proteinuria, hypoalbuminemia, hypertension and normal renal function for six years. Immunoelectrophoresis detected a monoclonal lgG K in serum, but no B-J protein in urine. A renal biopsy showed amyloidosis involved glomerular measngium, capillary loops, tubular basement membrane, and peritubular capillary vessels, in which the amyloid deposits stained only for IgG by immunofluoreseense. Amyloidosis also involved rectum and skin. The final diagnosis was g Heavy-chain amyloidosis.