Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
BACKGROUND
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Department of Nephrology, Starship Children's Hospital, Park Road, Private Bag 92024, Grafton, Auckland, 1023, New Zealand, wwong@adhb.govt.nz.
William
W
Wong
Maxwell Clarke
MC
Morris
Tonya
T
Kara
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D009520:New Zealand / Q000453:epidemiology; D010641:Phenotype; D011379:Prognosis; D017582:Renal Replacement Therapy; D012189:Retrospective Studies; D012307:Risk Factors; D013997:Time Factors; D044465:White People / Q000235:genetics*; D055815:Young Adult
D008565:Membrane Proteins; C113267:nephrin