Tiffany Reid was just 18 months old when she first developed a kidney stone.
There would be many more over the next four decades of her life – along with multiple infections and bladder problems – despite Reid’s efforts to follow her doctor’s advice to drink more water or change her diet. It wasn’t until she was an adult and suffering from kidney failure that she was referred to a kidney specialist (a nephrologist) and finally received a diagnosis.
After suggesting that she undergo genetic testing, Reid discovered that she had primary hyperoxaluria (PH), a rare genetic disorder that produces too much oxalate, leading to kidney stones, kidney damage and possibly kidney failure.
The effects of primary hyperoxaluria
Primary hyperoxaluria is a term that describes a group of rare genetic disorders that affect fewer than 1,000 people in the United States
PH causes too much oxalate to build up in the kidneys and other parts of the body. The excess oxalate ultimately contributes to the formation of kidney stones, which are extremely painful and can lead to organ disease and failure.
People with PH either cannot produce the enzyme needed to prevent oxalate formation or they do not produce enough of it. And PH is classified into three types: PH1, PH2 and PH3.
“The three types of PH are based on abnormalities in three different genes, all of which lead to increased urine production and excretion [output] of oxalate,” said Bradley A. Warady, MD, a pediatric nephrologist in Kansas City, Missouri.
PH1 is the most common and severe type. Approximately half of PH1 patients will go on to develop kidney failure if they are not diagnosed and treated early. However, effective treatment can slow the disease.
Many people with PH2 can maintain normal kidney function, but up to 1 in 3 people may experience kidney failure. Early detection and treatment can make a difference. PH3 is the rarest and mildest form of PH and rarely leads to kidney failure.
Diagnosis of primary hyperoxaluria
PH diagnoses are often made when a doctor notices certain symptoms—like recurring kidney stones—and performs further testing. Doctors may order an ultrasound to check for calcifications (calcium deposits that solidify into plaques) in the kidneys. However, a definitive diagnosis is made through genetic testing or by detecting oxalate in urine or plasma.
Symptoms of primary hyperoxaluria
The most common symptom is kidney stones, but PH can also have several other symptoms, including:
- Urinary tract infections
- Pain or burning when urinating
- Blood in your urine
- fatigue
- Crystals in kidney tissue
- Swelling, especially in the legs, ankles, feet, face and hands
PH can indirectly affect other areas of a person’s overall health. For example, PH does not directly affect a person’s ability to become pregnant or give birth, but patients with PH may have difficulty becoming pregnant if they develop kidney disease or other organ failure.
The stress of dealing with PH symptoms and kidney disease and failure can also lead to or worsen depression and anxiety. The pain, infections, and other symptoms that people experience can impact overall quality of life, as fatigue and pain can force people with PH to miss time at school, work, social gatherings, and other activities they enjoy.
That was Reid’s experience. Because she was often in pain, she had difficulty holding down a regular job and she was not always able to attend activities and events with her children. The mental toll of not knowing what was going on and feeling like she was doing something wrong — perhaps not eating right or drinking enough water — almost led to a nervous breakdown, she said.
Treatments for primary hyperoxaluria symptoms
The most important recommendation to control symptoms and pain in people with PH is to focus on adequate fluid intake to reduce oxalate levels in the body and prevent crystallization in the kidneys and other organs. Water is needed to dilute the oxalate that ends up in the urine, reducing the risk of painful kidney stones forming.
Although “hyperhydration” can help reduce the likelihood of kidney stones, the treatment comes with its own physical and emotional consequences. Due to frequent trips to the toilet, patients may experience sleep disturbances and interruptions in school and work. Support groups for people with PH suggest that patients work with schools and employers to find accommodations for their bathroom breaks and fluid intake.
Other therapies include potassium citrate, which can help prevent kidney stones from forming. And up to 3 in 10 people with PH1 experience a reduction in their oxalate levels when taking pyridoxine (vitamin B6) because the genetic mutation responds well to the vitamin.
Newer treatments such as RNAi therapeutics have also been shown to reduce oxalate production in people with PH1.
Dietary changes may help some patients, and some health care providers may suggest avoiding foods high in oxalates, such as chocolate, nuts, and spinach, and limiting animal proteins, which can increase oxalate levels. Reducing your salt intake can also be helpful.
Patients with advanced kidney disease may require dialysis or a transplant.
Because living with PH symptoms can impact patients’ mental health, Warady said patients should work with their care team to find mental and behavioral health providers who can support them. Patients may also benefit from support groups, such as those run by the Oxalosis and Hyperoxaluria Foundation.
Early diagnosis of primary hyperoxaluria
Due to advances in genetic testing, the average age at diagnosis of PH has dropped significantly, but the disease can still take a long time to diagnose.
Early diagnosis and treatment are extremely important as they can help halt or prevent the progression of PH. Those diagnosed later in life may face worse outcomes due to the long-term effects of kidney stones, infections and other stresses on the body such as bone disease and anemia that result from the buildup of oxalate.
Reid didn’t have the benefit of early diagnosis and treatment, but three years after knowing how to best manage her PH1, she has a brighter outlook for the future.
Today, Reid advocates for patients with PH through the Oxalosis and Hyperoxaluria Foundation, the organization that assisted her with her diagnosis and treatment plan. As she received a kidney and liver transplant for the first time in her life and learned how to effectively manage her PH1, both her physical and mental health improved.
Although there is no cure for PH, diagnosing it as early as possible, understanding your type of PH, and working with a healthcare team to determine the best care plan can make living with the disease easier.
This educational resource was created with support from Alnylam.
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