Niaudet P, Fuchshuber A, Gagnadoux M F, Habib R, Broyer M
Department of Pediatric Nephrology, Necker Enfants Malades Hospital, Paris, France.
Kidney Int Suppl. 1997 Mar;58:S85-90.
Steroid-resistant nephrotic syndrome with either minimal changes or focal and segmental glomerular sclerosis on initial biopsy is a severe condition as more than 50% of patients with the disease progress to end-stage renal failure within 10 years. We recently identified a distinct form of idiopathic nephrotic syndrome with an autosomal recessive mode of inheritance and were able to map the gene on the long arm of chromosome 1. The absence of recurrence of the disease after renal transplantation suggest a primary defect in a glomerular basement membrane protein. Several reports suggest that cyclosporine is effective in a proportion of patients with steroid-resistant idiopathic nephrotic syndrome, particularly when used in combination with corticosteroids. There are also data suggesting that high doses of cyclosporine may be necessary in patients with severe hypercholesterolemia. However, cyclosporine treatment should be carefully monitored in view of the high risk of nephrotoxicity, as shown by the results of repeat renal biopsies. The beneficial role of cyclosporine in recurrent steroid-resistant nephrotic syndrome is still debated. Preliminary observations suggest that the early use of intravenous cyclosporine may be effective in these patients.
初始活检显示为微小病变或局灶节段性肾小球硬化的激素抵抗型肾病综合征是一种严重疾病，因为超过50%的该疾病患者会在10年内进展为终末期肾衰竭。我们最近发现了一种具有常染色体隐性遗传模式的独特形式的特发性肾病综合征，并能够将该基因定位在1号染色体的长臂上。肾移植后疾病无复发提示肾小球基底膜蛋白存在原发性缺陷。几项报告表明，环孢素对一部分激素抵抗型特发性肾病综合征患者有效，特别是与皮质类固醇联合使用时。也有数据表明，严重高胆固醇血症患者可能需要高剂量环孢素。然而，鉴于肾毒性风险高，如重复肾活检结果所示，环孢素治疗应仔细监测。环孢素在复发性激素抵抗型肾病综合征中的有益作用仍存在争议。初步观察表明，早期使用静脉环孢素可能对这些患者有效。
