Tiffany Reid was just 18 months old when she passed a kidney stone for the first time.
Many more would come during the next four decades of her life — along with multiple infections and bladder issues — despite Reid’s efforts to follow her healthcare providers’ advice to drink more water or change her diet. It wasn’t until she was an adult and in kidney failure that she got referred to a kidney specialist (a nephrologist) and finally got a diagnosis.
After his suggestion to get genetic testing, Reid discovered she had primary hyperoxaluria (PH), a rare genetic disorder that produces too much oxalate, which leads to kidney stones, kidney damage and, potentially, kidney failure.
The effects of primary hyperoxaluria
Primary hyperoxaluria is a term that describes a group of rare genetic disorders affecting fewer than 1,000 people in the U.S.
PH causes too much oxalate to build up in the kidneys and other parts of the body. The excess oxalate eventually contributes to the development of kidney stones, which are extremely painful, and can progress to organ disease and failure.
People living with PH either cannot make the enzyme needed to prevent oxalate from building up or they don’t make enough of it. And PH is categorized into three types: PH1, PH2 and PH3.
“The three types of PH are based on abnormalities of three different genes, all of which result in increased production and urinary [output] of oxalate,” said Bradley A. Warady, M.D., a pediatric nephrologist in Kansas City, Missouri.
PH1 is the most common and most severe type. About half of PH1 patients will go on to develop kidney failure if they are not diagnosed and treated early. But effective treatment may slow down the disease.
Many people living with PH2 can maintain normal kidney function, but for up to 1 in 3 people, it can progress to kidney failure. Early detection and treatment can make a difference. PH3 is the least common and mildest form of PH and rarely causes kidney failure.
Diagnosing primary hyperoxaluria
Diagnoses of PH often take place when a healthcare provider notices certain symptoms — like recurrent kidney stones — and investigates further. HCPs can order an ultrasound to detect calcification (calcium buildup that hardens into deposits) of the kidneys. But a definitive diagnosis takes place through genetic testing or by finding oxalate in urine or plasma.
Symptoms of primary hyperoxaluria
The most common symptom is kidney stones, but PH can have several other symptoms, including:
- Urinary tract infections
- Pain or burning when urinating
- Blood in your urine
- Fatigue
- Crystals in kidney tissues
- 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 doesn’t directly affect a person’s ability to conceive or give birth, but patients with PH can have trouble conceiving if they develop kidney disease or other organ failures.
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 people experience can affect overall quality of life since the fatigue and pain can force people living with PH to miss time from school, work, socializing and other activities they enjoy.
This was Reid’s experience. Because she was often in pain, she had trouble keeping a regular job, and she couldn’t always attend activities and events with her children. The mental toll of not knowing what was wrong and feeling she must be doing something wrong —– perhaps not eating correctly or drinking enough water —– nearly led to a mental breakdown, she said.
Treatments for primary hyperoxaluria symptoms
The main recommendation for controlling symptoms and pain for people with PH is to focus on significant fluid intake to lower 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 urine, helping decrease the risk of painful kidney stones forming.
Although “hyperhydration” can help reduce the likelihood of kidney stones, the treatment carries its own physical and emotional toll. Patients can experience disrupted sleep and interruptions at school and work due to frequent bathroom trips. Support groups for people with PH suggest patients work with schools and employers to get accommodations for their bathroom breaks and liquid intake.
Other therapies include potassium citrate, which can help prevent kidney stones from forming. And up to 3 out of 10 people with PH1 see a reduction of their oxalate levels by taking pyridoxine (vitamin B6) because the genetic mutation responds well to the vitamin.
Newer treatments such as RNAi therapeutic agents have also been shown to decrease oxalate production in people with PH1.
Dietary changes can help some patients, and some healthcare providers might suggest avoiding foods with a high oxalate content, like chocolate, nuts and spinach, and limiting animal protein, which can increase oxalate. Reducing salt intake can also help.
For patients with advanced kidney disease, dialysis or a transplant might be necessary.
Early diagnosis of primary hyperoxaluria
Because of advances in genetic testing, the average age at diagnosis for PH has come down significantly, but the disease can still take a long time to diagnose.
Early diagnosis and treatment are extremely important because it can help hold off or prevent the progression of PH. Those diagnosed later in life can face worse outcomes because of the long-term effects of kidney stones, infections and other stresses on the body like bone disease and anemia that result from oxalate buildup.
Reid didn’t have the benefit of early diagnosis and treatment, but three years into knowing how to manage her PH1 as best as possible, she has a better outlook on her future.
Today, Reid is an advocate for patients with PH through the Oxalosis and Hyperoxaluria Foundation, the organization that supported her through her diagnosis and treatment plan. Receiving kidney and liver transplants and learning how to effectively manage her PH1 for the first time in her life has improved both her physical and mental health.
While PH has no cure, getting diagnosed as early as possible, understanding your PH type and working with a healthcare team to determine the best plan of care can make life with the condition easier.
This educational resource was created with support from Alnylam.
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