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Prevalence of genetic renal disease in children

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Abstract

Background

Genetic etiology comprises a significant proportion of renal disease in childhood. Completion of the Human Genome Project and increased genetic testing has assisted with the increased recognition of a genetic basis to many renal disorders. Australia and New Zealand have a relatively stable but diverse population, with eight major pediatric nephrology referral centers, which allow ascertainment of disease frequency.

Methods

To determine prevalence, pediatric nephrologists at the eight centers in Australia and New Zealand were surveyed on their estimated number of patients with renal disease of genetic etiology over a 10-year period. Disease prevalence was calculated using combined national population data.

Results

The overall prevalence of genetic kidney disease in children in Australia and New Zealand is 70.6 children per million age-representative population. Congenital anomalies of the kidney and urinary tract (CAKUT) and steroid-resistant nephrotic syndrome (SRNS) are the most frequent, with a prevalence of 16.3 and 10.7, respectively, per million children.

Conclusion

We find a similar prevalence of genetic renal disorders in Australia and New Zealand to those reported in other countries. This is likely to be due to inclusion of children with all forms of renal disease rather than being limited to those with renal impairment.

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Authors and Affiliations

  1. Centre for Kidney Research, The Children’s Hospital at Westmead, Lock Bag 4001 Westmead, Sydney, NSW, 2145, Australia

    Jeffery Fletcher & Stephen I. Alexander

  2. ANZDATA Registry, Queen Elizabeth Hospital, 28 Woodville Road, Woodville South, SA, 5011, Australia

    Stephen McDonald

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  1. Jeffery Fletcher
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  2. Stephen McDonald
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on behalf of the Australian and New Zealand Pediatric Nephrology Association (ANZPNA)

Corresponding author

Correspondence to Jeffery Fletcher.

Electronic supplementary material

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ESM 1

Data sheet used for collection of Prevalence data. (DOC 60 kb)

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Fletcher, J., McDonald, S., Alexander, S.I. et al. Prevalence of genetic renal disease in children. Pediatr Nephrol 28, 251–256 (2013). https://doi.org/10.1007/s00467-012-2306-6

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