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Related Experiment Videos

Primary hyperoxaluria--the German experience.

Bernd Hoppe1, Kay Latta, Christian von Schnakenburg

  • 1Division of Pediatric Nephrology, Children's Hospital Cologne, University of Cologne, Cologne, Germany. bernd.hoppe@uk-koeln.de

American Journal of Nephrology
|June 18, 2005
PubMed
Summary

Primary hyperoxaluria (PH) diagnosis is often delayed, even in end-stage renal failure (ESRF). While most German patients with PH do not require renal replacement therapy, combined liver-kidney transplantation is preferred but carries risks.

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Area of Science:

  • Nephrology
  • Genetics
  • Pediatrics

Background:

  • Primary hyperoxaluria (PH) is a heterogeneous genetic disorder.
  • It presents with variable age of onset and progression to end-stage renal failure (ESRF).

Purpose of the Study:

  • To ascertain epidemiologic data and current practices for Primary hyperoxaluria (PH) in Germany.
  • To update previous surveys from 1994, 2000, and 2004.

Main Methods:

  • A survey was conducted among the Pediatric Nephrology working group.
  • Data on diagnosis, symptoms, treatment, and outcomes were collected.
  • Enzyme activity and mutation analysis were increasingly performed.

Main Results:

  • PH diagnosis was made in 65 patients, suggesting a minimum prevalence of 0.7 per 1 million.

Related Experiment Videos

  • Delayed diagnosis, often in ESRF, was noted in 11% of patients.
  • Pyridoxine response was observed in 21%; no genotype/phenotype correlation was found. Combined liver-kidney transplantation was the preferred procedure.

    • Conclusions:

    • Despite increased awareness, PH diagnosis remains delayed.
    • Most German patients with PH do not require renal replacement therapy.
    • Additional treatment options for PH are needed, and combined liver-kidney transplantation has specific risks.