Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy
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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 mutation.
A database of CNS children at our center was retrospectively examined. All cases diagnosed between 1975 and 2011 were reviewed. Demographic data, clinical features, genetic mutations, treatment, and outcome were extracted from clinical records.
Thirty-five 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 end-stage renal disease (ESRD) with median renal survival of 30 years versus 0.7 years in Caucasian patients. Mutation analysis of NPHS1 showed a founder mutation in the Maori population.
Congenital nephrotic syndrome in New Zealand Maori children exhibit a different clinical course to Caucasian children and have a mutation that was first described in this ethnic group.
KeywordsNPHS1 Congenital nephrotic syndrome Maori Mutational analysis Children
The 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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