English
Primary hyperoxaluria (PH) is not a disease but a group of three rare genetic disorders: HP1, HP2 and HP3. They are linked to different genes and each cause you to produce too much oxalate, a waste that your body produces.
About 8,700 people in the United States have HP, but most don’t know it. Of the people who received this diagnosis:
- 8 out of 10 have PH1
- 1 in 10 has PH2
- 1 in 10 has PH3
All types of HP can lead to painful kidney stones, often requiring a trip to the emergency room and sometimes surgery, but HP1 is the most damaging to your kidneys.
If someone has HP, their parents had the disorder or carried one of its genetic variants. PH can be found in any racial or ethnic population, but each type of PH is more common in certain groups. HP1 is most common in people of East Asian descent, HP2 in people of South Asian descent, and HP3 in people of Ashkenazi Jewish descent.
Signs and symptoms of primary hyperoxaluria
Signs and symptoms of PH include:
- Frequent kidney stones
- Blood in the urine, called hematuria
- Painful urination
- Frequent urinary tract infections
- Acute pain in the back, side or stomach
- Progressive kidney problems that eventually lead to kidney failure
Additionally, oxalate can build up in other parts of the body. This is called systemic oxalosis. It can cause bone pain, fractures, heart problems such as irregular heartbeats (arrhythmias) and problems with your heart working properly, anemia, skin ulcers, vision problems, dental problems, muscle pain, and other problems.
HP1 is the most serious type and can occur in childhood. Most people with HP1 develop a serious kidney disease called end-stage renal disease (ESRD), and systemic oxalasis is more common. HP2 is less aggressive and IRT is not as common in this type. Finally, HP3 is the mildest form and ESRD is rare in this type.
PH symptoms change over time as they vary as the disease progresses and worsen as the oxalate causes more damage. It is important to report any changes in your health to your healthcare provider (HCP) so that you can determine whether the symptoms are related to PH or something else.
How to get a diagnosis of primary hyperoxaluria
Because it is unusual for children to have kidney stones, they should be tested for PH if a kidney stone is present. Other reasons to get tested for HP include:
- Close relatives who have HP
- Frequent kidney stones
- Family history of kidney stones
The earlier PH is diagnosed, the better the chance of slowing its progression. To diagnose PH, your doctor analyzes your family and medical history in detail. Tests could include:
- Genetic testing
- Blood tests for oxalate and estimated glomerular filtration rate (eGFR), which tell your doctor how well your kidneys are working
- Imaging tests of your kidneys, e.g. B. Ultrasound examinations or computed tomography (CT) images.
- 24-hour urine collection, where you store all of the urine produced for 24 hours
- Proof of calculation if you can present a calculation that you have provided
- Liver or kidney biopsy (although not commonly used for diagnosis)
Treatment of primary hyperoxaluria
The goals of treating people with PH are to prevent the buildup of oxalate and reduce damage to your kidneys and other parts of your body. Unless you have a medical condition (such as kidney damage) that limits the amount of water you can drink, drinking plenty of water and other fluids is one of the most important steps you can take. This dilutes the oxalate in your urine, reducing the risk of kidney stones. If you spread this intake throughout the day, it will be helpful for your kidneys to produce a regular flow of urine.
In addition to high water consumption, some people with HP1 take vitamin B6, which can be helpful in lowering oxalate levels. Two injectable prescription medications, lumasiran (Oxlumo) and nedosiran (Rivloza), can lower oxalate in people with HP1. Citrate medications can be helpful in preventing kidney stone formation in all types of PH.
People with HP are advised to avoid high amounts of vitamin C and therefore not to take supplements that contain vitamin C. You should also avoid eating foods high in oxalates such as nuts, chocolate, spinach, and tofu. Talking to a nutritionist can be helpful so you know which foods to eat and which to avoid.
If the disease progresses, especially HP1, and if you have ESKD, you will need dialysis or possibly a kidney and liver transplant. Primary hyperoxaluria is a rare disease, but one that has a significant impact on the lives of those affected. Knowing how to recognize and treat this disorder can make a big difference in your progress and expectations when it occurs.
This educational resource was created with support from Alnylam.
From your website articles
Related articles on the Internet