SP021COQ6 AND COQ2 MUTATIONS ASSOCIATED WITH STEROID RESISTANT NEPHROTIC SYNDROME

Gene mutations and steroid-resistant nephrotic syndrome.

Children with Steroid-resistant Nephrotic Syndrome: a Single-Center Study

Background and Aim: Steroid-resistant nephrotic syndrome (SRNS) accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. These patients are at risk of developing end-stage renal disease. The aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with SRNS.Materials and Met...

NUP107 mutations in children with steroid-resistant nephrotic syndrome.

Background NUP107 is a novel gene associated with autosomal recessive steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis (FSGS) in children. The frequency of NUP107 mutations in children with SR-FSGS remains unknown. Methods Nine families with two siblings affected by childhood-onset SRNS or proteinuria were recruited. FSGS was confirmed by a kidney biopsy in ...

Steroid Resistant Nephrotic Syndrome

Minimal Change disease (MCD) is the most common cause of Nephrotic Syndrome (NS) in children accounting for 70 to 90% of cases under the age of 10 years and 50% in older children.In adults MCD is found in 10 to 15% of cases with primary nephrotic syndrome. Most patients with MCD remit with steroids.1 Remission is defined as absence of proteinuria (urine albumin nil or trace on 3 conservative da...

Treatment of steroid-resistant pediatric nephrotic syndrome

Children who suffer from steroid-resistant nephrotic syndrome (SRNS) require aggressive treatment to achieve remission. When intravenous high-dose methylprednisolone fails, calcineurin inhibitors, such as cyclosporine and tacrolimus, are used as the first line of treatment. A significant number of patients with SRNS progress to end-stage renal disease if remission is not achieved. For these chi...