Prevalence of genetic renal disease in children

Pediatr Nephrol. 2013 Feb;28(2):251-6. doi: 10.1007/s00467-012-2306-6. Epub 2012 Sep 29.

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.

MeSH terms

  • Australia / epidemiology
  • Child
  • Child, Preschool
  • Genetic Counseling / statistics & numerical data
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / epidemiology*
  • Genetic Testing / statistics & numerical data
  • Humans
  • Infant
  • Infant, Newborn
  • Kidney Diseases / diagnosis
  • Kidney Diseases / epidemiology*
  • Kidney Diseases / genetics*
  • Nephrotic Syndrome / epidemiology
  • New Zealand / epidemiology
  • Prevalence
  • Urogenital Abnormalities
  • Vesico-Ureteral Reflux / epidemiology

Supplementary concepts

  • Cakut