Copelovitch Lawrence, Guttenberg Marta, Pollak Martin R, Kaplan Bernard S
Department of Pediatrics, Division of Nephrology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Pediatr Nephrol. 2007 Oct;22(10):1779-84. doi: 10.1007/s00467-007-0505-3. Epub 2007 May 25.
Familial and genetic forms of focal segmental glomerulosclerosis (FSGS) are associated with six different mutations in genes affecting the podocyte (NPHS2, ACTN4, CD2AP, WT1, TRPC6, and PLCE1). Immunosuppressive agents are often unsuccessful in treating this condition. Data regarding the efficacy of renoprotection through blockage of the renin-angiotensin axis is lacking. We describe three children from two different families with familial FSGS in whom partial to complete remission of proteinuria was attained through early blockade of the renin-angiotensin axis. In addition, there was no deterioration of renal function. We speculate that presymptomatic patients with normal renal function who have genetic or familial FSGS may benefit from early blockade of the renin-angiotensin axis and that this may also prevent progressive renal disease.
局灶节段性肾小球硬化（FSGS）的家族性和遗传性形式与影响足细胞的基因中的六种不同突变相关（NPHS2、ACTN4、CD2AP、WT1、TRPC6和PLCE1）。免疫抑制剂治疗这种疾病往往不成功。缺乏关于通过阻断肾素-血管紧张素轴进行肾脏保护疗效的数据。我们描述了来自两个不同家庭的三名患有家族性FSGS的儿童，他们通过早期阻断肾素-血管紧张素轴实现了蛋白尿部分至完全缓解。此外，肾功能没有恶化。我们推测，具有遗传或家族性FSGS且肾功能正常的症状前患者可能会从早期阻断肾素-血管紧张素轴中获益，这也可能预防进行性肾脏疾病。
