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青年男性,5岁起病,临床表现为中至大量蛋白尿,大量镜下血尿,肾功能缓慢减退,同时补体C3水平轻度下降。有肾脏疾病家族史。肾活检光镜初始改变为肾小球系膜增生性病变,重复肾活检见肾小球不典型膜增生性病变伴内皮下、系膜区大量嗜复红物沉积,免疫荧光以C3沉积为主,Ⅳ型胶原染色正常。电镜下肾小球系膜区、内皮下大量、基膜内节段电子致密物分布。基因测序未见补体相关基因突变。最终诊断为遗传性C3肾炎。
Young men, 5 years old onset, clinical manifestations of moderate to large proteinuria, a large number of microscopic hematuria, renal function slowed down, while the level of complement C3 decreased slightly. Have a family history of kidney disease. Renal biopsy light microscopy initially changed to mesangial proliferative lesions, repeated renal biopsy see glomerular atypical membrane hyperplasic lesions with endothelium, mesangial area a large number of accustomed to deposition, immunofluorescence to C3 deposition, Type Ⅳ collagen staining normal. Electron microscopy mesangial area, a large number of subendothelial, basal membrane segmental electron density distribution. Gene sequencing no complement-related gene mutations. The final diagnosis of hereditary C3 nephritis.