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Primary hyperoxaluria: the adult nephrologist's point of view

Shabbir H Moochhala1, Elaine M Worcester2

  • 1Royal Free and University College Medical School, UCL Department of Renal Medicine, London, UK.

Clinical Kidney Journal
|June 17, 2022
PubMed

Insights

Adult primary hyperoxaluria (PH) often presents subtly, delaying diagnosis. Early screening is crucial to prevent severe kidney damage and graft failure, especially when considering other rare kidney diseases.

Area of Science:

  • Nephrology
  • Rare Diseases
  • Metabolic Disorders

Background:

  • Primary hyperoxaluria (PH) in adults often presents insidiously, differing from pediatric cases.
  • Delayed diagnosis of PH can lead to significant renal function decline and systemic oxalosis.
  • Tragic outcomes include missed diagnosis until after renal graft failure.

Purpose of the Study:

  • To highlight the challenges in diagnosing adult primary hyperoxaluria.
  • To emphasize the importance of considering PH in adult kidney disease evaluations.
  • To advocate for proactive screening strategies for PH.

Main Methods:

  • Review of clinical presentations of adult primary hyperoxaluria.
  • Discussion of diagnostic challenges and differential diagnoses.
  • Emphasis on biochemical and genetic screening approaches.

Main Results:

  • Adult PH diagnosis is frequently delayed due to non-specific symptoms.
  • Recurrent kidney stones, nephrocalcinosis, and systemic oxalosis are key indicators.
  • Missed diagnosis can result in primary renal allograft non-function.

Conclusions:

  • Screening for primary hyperoxaluria in adults is warranted, particularly in cases of unexplained kidney disease.
  • Biochemical and genetic testing should be employed, carefully excluding common conditions.
  • Integrated diagnostic approaches for rare kidney diseases are essential.

Keywords:
clinical presentationdiagnosis of rare diseaseskidney stonesprimary non-functionscreening for rare disease

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