SAT-466 GENETIC SCREENING IN SYRIAN CHILDREN WITH CHALLENGING NEPHROTIC SYNDROME

Abstract

Genetic screening paradigms for nephrotic syndrome in the developed world are well established; however, screening in developing countries has received only minor attention we retrospectively analyzed a cohort of all children who underwent genetic testing for challenging nephrotic syndrome from our registry in the 10-year interval from 2000-2010 and based on 58 patients aged 0-12 years with at least one of the following clinical diagnosis: Non syndromic steroid-resistant nephrotic syndrome, familial nephrotic syndrome, and congenital nephrotic syndrome. Of these, 38% had a positive family history. All cases were screened for NPHS2, and WT1 mutations by direct sequencing of all exons of the genes. In addition, all patients who were diagnosed during the first 3 month of life were screened for NPHS1 mutations too A genetic disease cause was identified in 12 patients (20.7%); of these, 5 novel mutations, all in NPHS2 accounting for 42% of all mutations and 9% of the cohort. Nine patients were found to have NPHS2 mutations. Only one case with steroid resistant nephrotic syndrome had a mutation in WT1. Of the 5 congenital nephrotic syndrome, 2 cases were found to have NPHS1 mutations and one case with NPHS2 mutation. Therefore, mutations in NPHS2 were the most commonly identified and explained 15.5% of the screened patients and WT1 1.7% of cases whereas NPHS1 mutations were found in 40% of congenital nephrotic syndrome cases A genetic disease cause was identified in 20.7% of the screened patients. Among 12 identified mutations, abnormalities in NPHS2 (n=9) were most commonly identified