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Related Experiment Videos

Polycystic kidney disease re-evaluated: a population-based study.

F Davies1, G A Coles, P S Harper

  • 1Department of Medical Genetics, University of Wales College of Medicine, Cardiff.

The Quarterly Journal of Medicine
|June 1, 1991
PubMed
Summary

A genetic registry identified autosomal dominant polycystic kidney disease (ADPKD) cases in South and Mid-Wales. The study found a lower clinical prevalence than expected, suggesting benign prognoses for undiagnosed ADPKD.

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Area of Science:

  • Medical Genetics
  • Epidemiology
  • Nephrology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common genetic disorder.
  • Understanding its prevalence and clinical course is crucial for patient management.

Purpose of the Study:

  • To establish a genetic register of ADPKD cases in South and Mid-Wales.
  • To determine the apparent prevalence and characteristics of ADPKD in this population.
  • To analyze trends in renal replacement therapy and survival.

Main Methods:

  • Established a genetic register of ADPKD cases in a population of 2.1 million.
  • Identified 209 affected families and 303 living affected individuals.
  • Analyzed data on renal replacement therapy and survival over two decades.

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Main Results:

  • An apparent prevalence of 1:2459 was calculated, with 70 individuals on renal replacement therapy.
  • Five potential new mutations were identified.
  • The rate of renal replacement therapy has plateaued, despite improved survival for ADPKD patients over 50.

Conclusions:

  • The clinical prevalence of ADPKD in the region is less than half the estimated gene frequency.
  • Undiagnosed cases of ADPKD likely have a benign prognosis.
  • Improved survival rates were observed over time for ADPKD patients requiring treatment.