Authors: William Wong Maxwell Clarke Morris Tonya Kara
Publish Date: 2013/08/15
Volume: 28, Issue: 12, Pages: 2313-2321
Abstract
Infants with congenital nephrotic syndrome CNS develop severe nephrotic syndrome that is resistant to medical therapy and bilateral nephrectomy is recommended toward the end of the first year of life followed by renal replacement therapy CNS infants in New Zealand have been observed to exhibit a different course to those with the typical Finnish mutationThirtyfive patients with CNS 23 children of Maori descent and 12 Caucasians Fourteen had died of either bacterial sepsis or intracranial thrombosis Maori children had displayed a highly variable and protracted timeline to endstage renal disease ESRD with median renal survival of 30 years versus 07 years in Caucasian patients Mutation analysis of NPHS1 showed a founder mutation in the Maori populationThe authors wish to thank the funding support of Kidney Kids NZ Inc for the nephrin mutation analysis and all the renal physicians who have permitted participation of their patients diagnosed to have congenital nephrotic syndrome The authors also wish to thank the Nijmegen Genetics Centre Radboud University Nijmegen The Netherlands for undertaking the genetic analysis and Dr Juliet Taylor Clinical Geneticist Northern Regional Genetics Service for comments and prediction tools This study was presented in part at the 15th Congress of the International Pediatric Nephrology Association New York August 29 to September 2 2010
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