Congenital nephrotic syndrome may respond to cyclosporine A: A case report and review of literature

Abstract

Introduction Congenital nephrotic syndrome (CNF) is manifested at birth or within the first three months of life. The Finnish-type of CNF is caused by the mutation of the NPHS1 gene, which encodes nephrin in the podocyte slit diaphragm. It is a very severe disease, for which immunosuppressive therapy is not advised. Here we describe a patient with CNF who responded to CsA by partial remission. Case outline A girl aged 2.5 months presented with severe non-syndromic steroid-resistant nephrotic syndrome. She needed aggressive support including daily albumin infusions and diuretics. Substitution of vitamin D, thyroxin, and anticoagulants were regularly administered. She was also treated with angiotensin converting enzyme inhibitor, without clear benefits regarding proteinuria. In addition, she received intravenous gamma-globulin replacement therapy and antibiotics during frequent infections. While waiting for the results of genetic analyses and faced with many problems related to daily albumin infusions, infections, and thromboembolic complications, cyclosporine A (CsA) was introduced as an alternative to early nephrectomy and consequent renal failure. The patient responded by partial remission and CsA treatment continued at home without the albumin infusions. After almost five years since the beginning of the treatment, the patient's renal function remains unreduced. Conclusion Our case demonstrates that CsA can induce partial remission in patients with genetic forms of steroid-resistant nephrotic syndrome without influencing the glomerular filtration rate. However, its long-term effect and safety should carefully be monitored.

Cyclophosphamide versus cyclosporine A therapy in steroid-resistant nephrotic syndrome: a retrospective study with a mean 5-year follow-up

“…CSA was first used for treating SRNS in 1993, and it is currently widely used, but limited to short-term treatments. 3 , 15 , 21 One important reason for the short course of treatment is that CSA has obvious side effects of renal interstitial fibrosis. 12 , 14 , 18 Recurrence of renal disease is common after cessation of CSA treatment, with a recurrence rate of 44% at 12 months of treatment.…”

“… 12 , 14 , 18 Recurrence of renal disease is common after cessation of CSA treatment, with a recurrence rate of 44% at 12 months of treatment. 2 , 4 , 15 , 17 This rate has led to clinical extension of CSA treatment. The present study showed that that long-term CSA treatment reduced relapse rates.…”

“…Recent meta-analyses failed to demonstrate any difference in the efficacy of CTX and CSA in inducing remission in children with SRNS. 13 – 15 …”

Podocytopathies

“…Podocyte-targeted therapy can be carried out by inhibition of rennin angiotensin aldosteron system (RAAS), administration of immunosuppressive drugs and through the methods that achieve regeneration of the podocytes [7,32,[34][35][36].…”

Síndrome nefrótico congénito. Reporte de caso y revisión del enfoque diagnóstico

“…La forma congénita es una variante poco frecuente del síndrome nefrótico, la cual se presenta al nacimiento o dentro de los tres primeros meses de vida y suele ser resistente a la corticoterapia 4,5 . Establecer un diagnóstico preciso requiere estudios clínicos, bioquímicos, histológicos y genéticos.…”