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女性,12岁。因反复贫血11年、蛋白尿3年入院。1岁时因贫血入院检查。血红蛋白40g/L,骨髓检查巨幼红细胞性贫血,经治疗后好转,但以后反复出现贫血,近3年发现蛋白尿再次入院。父母近亲婚配。查体:营养发育良好,贫血貌,心尖区Ⅱ级收缩期杂音,两肺(一)。肝脾未触及。血压16/10kPa。血常规:血红蛋白57g/L,红细胞1.85×10~(12)/L,白细胞5.2×10~9/L,血小板正常,网织红细胞0.6％,尿蛋白++→+++。尿盘状电泳:中分子蛋白尿,血清C30.66g/L内生肌酐清除率85.4％,尿氨基酸分析(一)。骨髓检查:巨幼红细胞性贫血。肾脏活体组织学检查:光镜:肾小球局灶性节段性透明变性及硬化。免疫荧光检查:C3及CIq均为++。患儿及其家属血清叶酸(FA)及B_(12)放射免疫分析结果分别如下:患儿FA15.2ng/ml(正常3～17ng/ml)。B_(12)170.3pg/ml(正常200～950pg/ml),患儿之父
Female, 12 years old. 11 years due to recurrent anemia, proteinuria 3 years admitted. 1 year old due to anemia admission examination. Hemoglobin 40g / L, bone marrow examination of megaloblastic anemia, improved after treatment, but after repeated anemia, proteinuria was found again in the past 3 years hospitalized. Parents and relatives marriage. Physical examination: well-developed nutrition, anemia appearance, apex systolic murmur Ⅱ, both lungs (a). Liver and spleen not touched. Blood pressure 16 / 10kPa. Blood: hemoglobin 57g / L, red blood cells 1.85 × 10-12 / L, white blood cells 5.2 × 10 ~ 9 / L, normal platelets, reticulocytes 0.6%, urinary protein ++ → +++. Urine disk electrophoresis: proteinuria, serum C30.66g / L endogenous creatinine clearance rate of 85.4%, urine amino acid analysis (a). Bone marrow examination: Megaloblastic anemia. Renal biopsy: light microscopy: focal segmental segmental glomerular degeneration and sclerosis. Immunofluorescence: C3 and CIq are ++. The results of FA and B 12 radioimmunoassay in children and their relatives were as follows: children with FA15.2ng / ml (normal 3 ~ 17ng / ml). B_ (12) 170.3pg / ml (normal 200 ~ 950pg / ml), the father of children