Primary hyperoxaluria (PH) is a rare genetic disorder that disrupts the liver’s ability to regulate oxalate, a natural chemical–found in the body and certain foods–that can form crystals in your urine. This condition leads to excessive oxalate buildup, primarily in the kidneys, causing various, even potentially life-threatening, complications. Learn more about the causes, symptoms, and treatment of primary hyperoxaluria.*

What Is Primary Hyperoxaluria?

PH is caused by genetic mutations that impair the production of specific proteins necessary for breaking down oxalate. This rare condition has three main types, according to the mutations involved:

• PH1, affecting 80% of those diagnosed, considered the most severe type,
• PH2, affecting 10%, and 
• PH3, affecting the remaining 10%. 

Symptoms often begin in childhood or adolescence, manifesting as:

• Fever,
• Blood in your urine,
• Severe or sudden back pain, and
• Frequent or painful urination.

Over time, untreated PH can lead to kidney failure, rendering the kidneys unable to excrete oxalate. This condition, known as oxalosis, allows oxalate to accumulate in other tissues, causing complications like:

• Kidney stones, 
• Kidney failure, and 
• Systemic complications like:
  • Bone disease,
  • Skin ulcers,
  • Heart issues, and 
  • Nerve pain and damage.

A related but different condition is secondary hyperoxaluria, which is not genetic but results from excessive oxalate absorption due to conditions like Crohn’s disease or a diet high in oxalate-rich foods. 

While it shares symptoms with PH, such as kidney stones and abdominal pain, its root cause lies in dietary and intestinal factors, making it more common than the primary type.

Diagnosing Primary Hyperoxaluria

Most people with PH experience their first kidney stones by age 20. Symptoms such as sharp back or abdominal pain, blood in the urine, and nausea often prompt medical evaluation. 

Diagnosis involves a combination of:

• Urine and blood tests, 
• Genetic testing, and 
• Imaging techniques like ultrasounds. 

For some, PH is only identified after significant kidney damage or failure, emphasizing the need for awareness and early testing in at-risk populations.

Treatment and Management: A Multidisciplinary Approach

Medical and Dietary Interventions

Treatment for PH aims to reduce oxalate levels and prevent kidney damage. Options for reducing oxalate production include medications like:

• Lumasiran for PH1, 
• Vitamin B6, or 
• Nedosiran. 

Other common interventions include:

• Drinking 8-12 cups of fluid daily to dilute urine and prevent crystal formation, 
• Avoiding high-oxalate foods like spinach and nuts, and 
• Eating calcium-rich foods. 

Dietary changes can have mixed results, however, so it’s important to work with your healthcare provider to customize your treatment for your needs.

Advanced Treatments for Severe Cases

For patients with significant kidney damage, interventions may include dialysis or, in severe cases, a liver or kidney transplant. These treatments address both the symptoms and the underlying metabolic dysfunction. Genetic counseling can also help families understand their risk and explore options for early diagnosis in future generations.

Understanding primary hyperoxaluria offers insights into the complexities of genetic disorders and the vital interplay between diet, genetics, and organ function. While rare, PH highlights the need for vigilance, personalized care, and continued research to improve outcomes for those affected.

*American Kidney Fund. (2024, September 13). Primary hyperoxaluria and oxalate: Symptoms, causes and treatment. Retrieved from https://www.kidneyfund.org/all-about-kidneys/other-kidney-diseases/primary-hyperoxaluria-and-oxalate-symptoms-causes-and-treatment 

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