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Warning signs of primary hyperoxaluria (PH)
Diagnosis is the first step to managing PH. The earlier PH is identified, the sooner you can make changes to your lifestyle and discuss management options with your physician to help limit damage to your kidneys.
The most common signs and symptoms of PH are listed below. PH varies widely from individual to individual, so someone with PH may experience one or a combination of these symptoms. These symptoms could show up in childhood or later in life.
If you or your loved one experience any of these symptoms, contact your healthcare provider.
Children should not get kidney stones. Even a single kidney stone in an infant or child should immediately raise suspicion of a genetic condition like PH.
Repeated urinary tract infections, abdominal pain, and blood in the urine are signs of kidney stones in children.
A single kidney stone in an adult isn’t uncommon, but repeated kidney stones over time could be a sign of a genetic disorder like PH.
Repeated urinary tract infections, abdominal pain, and blood in the urine are signs of kidney stones. If you have had one or more of these symptoms, you may have had a kidney stone, even if you didn’t know it at the time.
If you have a family history of kidney stones, it could indicate that a genetic disease runs in your family. Ask your healthcare provider about testing for PH and other genetic conditions that cause kidney stones.
If one of your blood relatives has been diagnosed with PH, you might have it too. About 20% of people with PH have no symptoms at first, so it’s a good idea to ask your healthcare provider about testing for PH, even if you do not currently have any symptoms.
If your oxalate levels are too high, it could be a sign of PH. Oxalate levels can be measured in urine using a 24-hour urine test (or, in children, a spot urine test). If your PH is more advanced, oxalate levels can be measured in the blood using a plasma oxalate test.
Nephrocalcinosis is a condition in which calcium deposits build up in the kidney. Although nephrocalcinosis itself may or may not have signs and symptoms, these calcium deposits cause kidney damage, inflammation, and infection, reducing the kidney’s filtering ability and leading to a decline in kidney function. An imaging test called an ultrasound can be used to detect nephrocalcinosis.
Unexplained CKD can sometimes be caused by undiagnosed PH. There are multiple symptoms that could point to kidney damage. If you’re experiencing one or more of the signs listed below, ask your healthcare provider about your kidney health. They can determine if you have CKD by measuring your estimated glomerular filtration rate (eGFR) with a simple blood test.
Signs and symptoms of CKD can include:
- More tired, low energy, trouble concentrating
- Dry and itchy skin
- Change in how much you urinate
- Foamy urine
- Dark urine (blood in the urine)
- Persistent puffiness around your eyes
- Swollen ankles or feet
- Muscle cramping
- Nausea, vomiting, or loss of appetite
- Chest pain
- Shortness of breath
- High blood pressure (hypertension) that’s hard to control
When oxalate starts to build up in other parts of the body outside of the kidneys, like the skin, eyes, heart, and bones (known as systemic oxalosis), other symptoms may start to appear. These may include skin sores (also called ulcers) or skin bumps, visual impairment or vision loss, repeated bone fractures or bone pain, and problems with your heart muscle or the rhythm of your heart.
Signs of kidney stones in infants may include inconsolable crying and irritability. Signs of a more severe infant form of PH (sometimes called “infantile oxalosis”) can include not gaining weight or growing as fast as expected (also described as “failure to thrive”), kidney failure, and vision loss.
Signs of kidney stones in young children may include abdominal pain, repeated urinary tract infections, blood in the urine, vomiting, and constipation.
Getting a diagnosis is the first step.
If you and your doctor suspect PH, they will likely conduct a series of tests to confirm your diagnosis.
"Some people would think colic, but I just thought she needed some soothing to sleep. I would snuggle with her to try to make her feel safe, and she would eventually fall back to sleep. But sometimes she would just whimper or cry for an hour. I suspect now that she was having kidney pain from the stone, but we didn’t know until she ended up with a severe infection that took us to the [emergency department].”
– Mother of child with PH2
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PH runs in families
If one family member is diagnosed with PH, other family members should be screened too.
