遗传性进行性肾炎虽有不少报道,但表现为肾病综合征者极为罕见。本院收治一例并进行了家系调查,现报告如下: 患者男,20岁,工人。反复肉眼血尿2年,浮肿1年,视物不清、听力下降10个月,发现血压升高3个月,院外曾应用皮质激素治疗2月余无效。入院查体:BP20/13.3kpa(150/100mmHg)。贫血貌,眼脸水肿,听力减退,心肺正常,肝脾不大,腹水征(+),双下肢指陷性水肿。实验室检查:尿蛋白定性册,定量:6.76g/24小时,红细胞10～15/HP,血红蛋白:91g/L,血沉50mm/h。血肌酐213μmol/L,尿素氮10.2mmol/L,尿肌酐1100mg/24h,肌酐清除率31.8ml/min。免疫球蛋白IgG∶8.42g/L,IgA∶1.94g/L,IgM∶4.33g/L,C_3:113.53mg/L。血浆白蛋白24g/L。总胆固醇:5.77mmol/L,甘油三酯2.77mmol/L。眼科检查:视力左0.5,右0.8,眼底黄斑区水肿,A∶V=2∶1,有异常交叉,整个网膜下有黄白色渗出,以右眼为重。电测 Although there are many reports of hereditary progressive nephritis, nephrotic syndrome is extremely rare. The hospital admitted to a case and conducted a pedigree investigation, are as follows: Patient male, 20 years old, worker. Repeated gross hematuria 2 years, edema 1 year, blurred vision, hearing loss 10 months and found that blood pressure increased 3 months, the hospital had been treated with corticosteroids more than 2 months invalid. Admission examination: BP20 / 13.3kpa (150 / 100mmHg). Anemia appearance, face edema, hearing loss, normal heart and lung, liver and spleen, ascites sign (+), double lower extremity finger edema. Laboratory tests: urine protein qualitative book, quantitative: 6.76g / 24 hours, red blood cells 10 ~ 15 / HP, hemoglobin: 91g / L, ESR 50mm / h. Serum creatinine 213μmol / L, urea nitrogen 10.2mmol / L, urine creatinine 1100mg / 24h, creatinine clearance rate of 31.8ml / min. Immunoglobulin IgG: 8.42 g / L, IgA: 1.94 g / L, IgM: 4.33 g / L, C_3: 113.53 mg / L. Plasma albumin 24g / L. Total cholesterol: 5.77mmol / L, triglyceride 2.77mmol / L. Eye examination: visual acuity left 0.5, right 0.8, fundus macular edema, A: V = 2: 1, there are abnormal cross, yellowish white oozing under the entire subretinal, with the right eye as the most important. Electrical test