The primary hyperoxalurias

Bernd Hoppe, Bodo B. Beck, Dawn S. Milliner

Research output: Contribution to journalShort survey

220 Scopus citations

Abstract

The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations. End stage renal failure frequently occurs and is followed by systemic oxalate deposition along with its devastating effects. Due to the lack of familiarity with PHs and their heterogeneous clinical expressions, the diagnosis is often delayed until there is advanced disease. In recent years, improvements in medical management have been associated with better patient outcomes. Although there are several therapeutic options that can help prevent early kidney failure, the only curative treatment to date is combined liver-kidney transplantation in patients with type I PH. Promising areas of investigation are being identified. Knowledge of the spectrum of disease expression, early diagnosis, and initiation of treatment before renal failure are essential to realize a benefit for patients.

Original languageEnglish (US)
Pages (from-to)1264-1271
Number of pages8
JournalKidney international
Volume75
Issue number12
DOIs
StatePublished - Jun 1 2009

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Keywords

  • Nephrocalcinosis
  • Oxalate
  • Systemic oxalosis
  • Urolithiasis

ASJC Scopus subject areas

  • Nephrology

Cite this

Hoppe, B., Beck, B. B., & Milliner, D. S. (2009). The primary hyperoxalurias. Kidney international, 75(12), 1264-1271. https://doi.org/10.1038/ki.2009.32