Molecular basis of primary hyperoxaluria and strategies for diagnosis

Abstract

Introduction: The primary hyperoxalurias (PH) are a group of inherited disorders characterised by increased urinary oxalate leading to renal stone disease and severe morbidity and mortality. A review of our current knowledge of these disorders is presented.

Areas covered: Each of the three disorders, PH1, PH2 and PH3, is described in turn from the function of the normal gene product to the effect of mutations on enzyme structure and function. The clinical diagnosis of the diseases is considered along with treatment strategies.

Expert opinion: In this section, guidance is given to the essential points of diagnosis as well as an overview of the future strategies for treatment of these disorders.

Keywords:

• glycolate
• glyoxylate
• mutations
• primary hyperoxaluria
• treatment

Declaration of interest

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending or royalties.

Notes

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