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
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
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