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Tiffany Reid was just 18 months old when she had her first kidney stone.
He would have much more of this over the next four decades of his life, along with multiple infections and bladder problems, despite Reid’s efforts to follow his doctor’s advice to drink more water or change his diet. It was only when he suffered from kidney failure in adulthood that he was referred to a kidney specialist (a nephrologist) and finally received a diagnosis.
When he suggested 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 a lot of oxalate to build up in the kidneys and other parts of the body. Excess oxalate eventually contributes to the formation of kidney stones, which are extremely painful and can lead to organ dysfunction and failure.
People with HP cannot make or produce the enzyme needed to prevent oxalate formation. And HP is classified into three types: HP1, HP2 and HP3
“The three classifications of HP are based on abnormalities of three different genes that lead to increased production [emisión] Oxalate in urine,” said Bradley A. Warady, MD, a pediatric nephrologist in Kansas City, Missouri.
HP1 is the most common and serious type. Approximately half of patients with HP1 will develop kidney failure if they are not diagnosed and treated early. However, effective treatment could slow the progression of this disorder.
Many people with HP2 can maintain normal kidney function, but in up to 1 in 3 people, this disorder can lead to 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, such as recurring kidney stones, and performs further testing. Health care providers may order an ultrasound to look for calcifications (calcium buildup that hardens into plaque) in the kidneys. However, a definitive diagnosis is made through a genetic test or detection of oxalate in urine or serum.
Symptoms of primary hyperoxaluria
The most common symptom is kidney stones, but PH can also have 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 also indirectly affect other areas of general 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 as well as kidney failure and kidney disease can also cause or worsen depression and anxiety. The pain, infections and other symptoms that people suffer can affect the overall quality of life, as fatigue and pain can cause people with PH to miss time for their studies, work, social life and other activities they normally enjoy.
That’s exactly what happened to Reid. Because she was often in pain, she had difficulty holding a regular job and was not always able to participate in activities and events with her children. He said the mental strain of not knowing what was happening to him and the feeling that he was doing something wrong, perhaps not eating right or drinking enough water, almost led to a nervous breakdown.
Treatments for symptoms of primary hyperoxaluria
The main recommendation for managing symptoms and pain in people with PH is to focus on significant 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 your urine, which is helpful in reducing the risk of painful kidney stones forming.
While “hyperhydration” can be helpful in reducing the risk of kidney stones, the treatment takes its own physical and emotional toll. Patients may experience sleep disturbances and interruptions in learning and work due to frequent toilet use. Support groups for people with PH suggest that patients work with educational institutions and employers to make arrangements for bathroom breaks and fluid intake.
Other therapies include potassium citrate, which may be helpful in preventing kidney stones from forming. And up to 3 in 10 people with HP1 may experience a reduction in their oxalate levels when taking pyridoxine (vitamin B6) because the genetic mutation responds well to this vitamin.
It has also been shown that newer treatments such as RNAi therapeutics can reduce oxalate production in people with HP1.
Dietary changes may be helpful for some patients, and some healthcare providers may suggest avoiding foods high in oxalate, such as chocolate, nuts, and spinach, and limiting animal proteins, which can increase oxalate levels. Reducing your salt intake could also be helpful.
Patients with advanced kidney disease may require dialysis or transplants.
Because living with PH symptoms could place a heavy burden on patients’ mental health, Warady said patients should work with their care team to find mental and behavioral health providers who can help them. Patients may also benefit from support groups, such as those listed on the Oxalosis and Hyperoxaluria Foundation website.
Early diagnosis of primary hyperoxaluria
Due to advances in genetic testing, the average age at diagnosis of HP has decreased significantly, but diagnosis of this condition can still take a long time.
Early diagnosis and treatment are extremely important as they can help stop or prevent the progression of PH. People who receive a diagnosis later in life may experience worse clinical outcomes due to the long-term effects of kidney stones, infections and other body problems such as bone disease and anemia caused by oxalate formation.
Reid didn’t benefit from early diagnosis and treatment, but after three years of knowing how to best treat his HP1, his future prospects are brighter.
Currently, Reid raises awareness for patients with PH through the Oxalosis and Hyperoxaluria Foundation, the organization that supported him throughout his diagnostic process and treatment plan. As he received kidney and liver transplants for the first time in his life and learned to effectively manage his HP1, his physical and mental health improved.
Although there is no cure for PH, getting a diagnosis as quickly as possible, understanding your type of PH, and working with a healthcare team to determine the best care plan can make living with this condition easier.
This educational resource was created with support from Alnylam.
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