Hyperoxaluria and Oxalosis – Diagnosis and Treatment
Diagnosis
Doctors use several steps and tests to find out if someone has hyperoxaluria or related problems like primary hyperoxaluria and oxalosis.
First, they often perform a physical check and discuss the person’s health history, focusing on symptoms like kidney stones, kidney pain, or family history of kidney disease.
Common diagnostic methods include:
- 24-Hour Urine Collection: Patients collect their urine over a full day. This sample helps measure oxalate and other materials present, which can show if the body is overproducing oxalate.
- Blood Tests: These assess kidney function by checking levels of waste in the blood and measure the amount of oxalate. High oxalate can indicate kidney damage or chronic kidney disease (CKD).
- Kidney Imaging: Doctors use ultrasound, X-ray, and CT scans to locate kidney stones, nephrocalcinosis (calcium build-up in the kidneys), or systemic oxalosis (widespread oxalate deposits).
Specialized testing might include:
- Stone Analysis: If stones have formed or been removed, doctors test their material to find if they contain calcium oxalate crystals.
- Genetic Testing: Changes in genes responsible for glyoxylate metabolism can confirm a diagnosis of primary hyperoxaluria or its subtypes (such as PH1).
- Tissue Biopsies: In some cases, doctors may take small samples (from the kidney, liver, bone marrow, or other areas) to check for oxalate or to detect enzyme problems when the diagnosis is uncertain.
- eGFR Test: This evaluates the glomerular filtration rate, giving a measure of kidney filtering ability and showing the stage of chronic kidney disease.
Other exams:
- Echocardiogram: Doctors use this to check for oxalate build-up in the heart.
- Eye Exam: Eye specialists can spot oxalate crystals in the eyes, which may indicate systemic oxalosis.
If doctors diagnose hyperoxaluria, they may recommend testing close relatives, especially for primary hyperoxaluria, as it may run in families. Medical genetics professionals can guide further steps and family planning.
Treatment
Ways to Lower Oxalate Levels
Doctors manage hyperoxaluria by reducing oxalate levels in the body. In people with primary hyperoxaluria, RNA interference therapies may help lower oxalate production.
For some individuals, high-dose vitamin B6 (pyridoxine)—an over-the-counter supplement—can decrease the amount of oxalate the body produces.
Doctors may prescribe phosphate and citrate supplements to prevent oxalate crystals from forming by binding to calcium. In some types of hyperoxaluria, they suggest calcium supplements with meals to help oxalate leave the body through stool instead of building up.
Doctors often recommend increasing daily fluid intake. Drinking more water helps wash oxalate out through the urine and reduces the risk of kidney stones. Here is a basic list to follow:
- Drink enough fluids every day.
- Take medicines as prescribed.
- Use supplements like phosphate or citrate if told to do so.
People with certain forms of the condition may also need diet changes. Limiting foods high in oxalate, salt, animal protein, and sugar can help.
However, diet changes are not helpful for all types, especially primary hyperoxaluria. Patients should follow the specific advice given by their healthcare provider.
Managing Kidney Stones
Kidney stones often occur in those with hyperoxaluria. Not every stone requires removal, but large or painful stones may need treatment. Doctors might use procedures to break up or remove stones if they block urine flow or cause symptoms.
Common treatments for kidney stones include:
| Treatment Type | Purpose |
|---|---|
| Stone removal | For large or blocking stones |
| Shock wave therapy | To break up stones |
| Medications | Pain control and stone passage |
Patients with recurring kidney stones may also use crystallization inhibitors to stop new stones from forming.
Dialysis and Organ Transplant Options
When kidney function drops, doctors may recommend hemodialysis. While dialysis helps remove waste, it usually cannot clear all the oxalate that builds up in the body.
For primary hyperoxaluria, an organ transplant can be an important treatment. A kidney transplant helps if the kidneys have serious damage.
In some cases, a liver transplant—sometimes done along with a kidney transplant—offers the only way to stop the body from making too much oxalate. This may help cure certain types of primary hyperoxaluria.
The care team helps patients choose between dialysis and transplant, depending on the type and severity of the condition and how well other treatments are working.
Getting Ready for Your Visit
Steps You Can Take Before the Appointment
Preparing ahead of time helps people get the most out of their doctor visit. Patients should:
- Ask if there are any special directions. This could include avoiding some foods or drinks before the appointment.
- Write down all symptoms. Include any changes, even if they don’t seem important or related to kidney issues.
- Keep a record of fluid intake and urine output. Tracking this for a full day gives useful information for the doctor.
- List all medications, supplements, and vitamins. Note the doses and frequency for each item.
- Bring a support person if possible. A caregiver, family member, or friend can help listen, ask questions, and remember important information shared during the appointment.
- Prepare a list of questions. These might include:
| Potential Questions to Ask |
|---|
| What could be causing my symptoms? |
| Are more tests needed? |
| Do I have kidney stones, and what kind? |
| What treatments are available? |
| How can I handle other health problems together? |
| How should I prepare for follow-ups? |
If patients have pain, they should note how often it happens, how strong it is, and what helps or makes it worse. Bringing this information can help the doctor better understand what the patient is experiencing.
How the Doctor Will Guide the Visit
The doctor usually asks questions to better understand the situation, such as:
- When did the symptoms begin?
- Are the problems constant or do they come and go?
- How much pain is there, and where is it?
- Does anything seem to make the pain better or worse?
- Is there a family history of kidney stones or related issues?
The doctor may also check on the role of caregivers and ask if they have noticed changes or have concerns.
Honest answers to these questions help the medical team find the best care plan. The patient and their caregiver can discuss worries, ask for more details, and explore next steps for treatment.
