Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Questions

Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

“… 4 , 5 We have reported mutations of only NPHS1, NPHS2, and WT1, and, therefore, some children with negative mutations initially were found to have other mutations such as TRPC6 6 or SMARCAL1. 7 , 8 Furthermore, we believe that we have other undiscovered mutations in our area as the underlying cause of childhood SRNS. We agree with Dr. Mubarak about the need for mult-center studies of larger scale and prospective nature, to develop international guidelines on the clinical utility of genetic testing in childhood SRNS.…”