Primary hyperoxaluria is a family of rare genetic disorders causing hepatic oxalate overproduction that can result in life-threatening kidney damage.

Understanding Primary Hyperoxaluria

PH is a family of rare genetic disorders causing hepatic oxalate overproduction that can result in life-threatening kidney damage. Although PH1 is the most well known, all PH subtypes are likely underdiagnosed.8,9

Mechanism of Disease

Although PH primarily manifests as a kidney disease, it originates with an enzyme deficiency in the liver. This enzyme deficiency results in a buildup of glyoxylate, which is converted to oxalate by hepatic LDH.8,10

The diagnostic process for primary hyperoxaluria typically begins with 24-hour urine collection.

Diagnosing Primary Hyperoxaluria

Many patients with primary hyperoxaluria experience a significant delay in diagnosis. The diagnostic process typically begins with a 24-hour urine test. Genetic testing can confirm a PH diagnosis and subtype.1,8,11-13

Current management options for primary hyperoxaluria include hyperhydration and calcium oxalate crystallization inhibitors.

Managing Primary Hyperoxaluria

PH1, PH2, and PH3 are all linked to kidney stones and burdensome stone removal procedures, with 70% of patients requiring one or more urologic procedures during their lifetime. In more advanced cases, PH patients may require regular dialysis and a dual liver-kidney transplant.8,14-24

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