Primary Hyperoxaluria
Primary Hyperoxaluria

Primary Hyperoxaluria

A genetic disorder in which kidney stones give reason to investigate further

Warning Signs of Primary Hyperoxaluria (PH)

If your patient is experiencing one or more of the following symptoms, primary hyperoxaluria, also known as PH, may be the cause.1-7

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  • A family history of stone disease can be a warning sign of primary hyperoxaluria.
    Family history of kidney or bladder stones
  • A single pediatric kidney stone could be a sign of primary hyperoxaluria.
    A single pediatric kidney stone
  • Multiple or recurring kidney stones in adults could be a sign of primary hyperoxaluria.
    Recurring kidney stones in adults
  • Chronic kidney disease could be a sign of primary hyperoxaluria.
    Chronic kidney disease (CKD) with unknown etiology
  • Nephrocalcinosis may be one of the signs of primary hyperoxaluria.
    Nephrocalcinosis
  • Primary hyperoxaluria could lead to systemic oxalosis.
    Systemic oxalosis
  • Failure to thrive, ESRD, severe retinal abnormalities, or vision loss in infants could be signs of primary hyperoxaluria.
    Failure to thrive, ESRD, severe retinal abnormalities or vision loss in infants
  • End-stage renal disease could be a sign of primary hyperoxaluria.
    End-stage renal disease (ESRD)
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

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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

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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

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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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