Congenital nephrotic syndrome

Abstract

Congenital nephrotic syndrome (CNS) is a rare and uniformly fatal disease if it is not treated. Although renal transplantation has been a successful treatment, there remains a high mortality rate during the first year of life before transplantation. From 1979 to 1987, four patients with CNS, all of whom died before they could undergo renal transplantation were treated. On the basis of this clinical experience, early elective bilateral nephrectomy and dialysis for infants with CNS were initiated to improve overall outcome. From 1987 to 1989, this protocol has been used on four consecutive patients with CNS. In these patients, bilateral nephrectomy was performed only after patients suffered a serious CNS-related complication that occurred between 4 and 6 months of age. Despite nephrectomy and the need for chronic dialysis, all patients grew at normal or accelerated rates. By 16 months of age, all patients underwent successful renal transplantation.

Clinical presentation and management of nephrotic syndrome in the first year of life: A report from the Pediatric Nephrology Research Consortium

“…It is defined as congenital nephrotic syndrome (CNS) if the disease onset is in the first 3 months of life, or infantile nephrotic syndrome (INS) if it occurs between 3 and 12 months of life. CNS, if left untreated, is a fatal disease ( 1 , 2 ) but over the past four decades novel treatment approaches have greatly enhanced the survival of these patients (among them: nutritional support, attempts to prevent infections and thromboses, use of anti-proteinuric agents, refined methods of renal replacement therapy and renal transplantation at a younger age) ( 3 – 5 ). Management is challenging and influenced by many factors, including the degree of edema and the associated complications caused by massive proteinuria and hypoalbuminemia.…”

“…Many patients eventually require bilateral nephrectomy followed by dialysis until transplantation ( 2 , 12 ) in order to decrease the risk of infections and blood clots ( 1 ). Unilateral nephrectomy is an alternative to bilateral nephrectomy, while decreasing the amount of protein losses, obviating the need for immediate dialysis ( 6 , 8 , 13 ).…”