Overview
Hyperoxaluria (hi-pur-ok-suh-LU-ree-uh) is a condition where there is an excessive amount of oxalate, a natural chemical found in the body and some foods, in urine. Oxalate buildup in urine can lead to kidney stones and other serious problems if left untreated. Hyperoxaluria can be caused by genetic factors, intestinal diseases, or consuming high-oxalate foods. It's essential to detect and treat hyperoxaluria early to prevent damage to the kidneys and other health complications.
Understanding the disease
Symptoms
The main symptom of hyperoxaluria is the presence of excessive oxalate in the urine, which can lead to kidney stones and other complications. Other symptoms may include kidney failure, which can present as peeing less than usual or not peeing at all, feeling ill and tired, not feeling hungry, upset stomach and vomiting, pale ashen skin or other changes to skin color tied to having a low number of red blood cells (anemia), and swelling of hands and feet. In its late stages, hyperoxaluria can cause bone disease, anemia, skin ulcers, and heart and eye problems, among other health issues. If you suspect you or your child may have hyperoxaluria, it is important to consult a doctor for proper diagnosis and treatment.
Risk Factors
Risk factors for developing hyperoxaluria can include:
- Inherited genetic disorders: Primary hyperoxaluria, which is caused by gene mutations, can be inherited from parents and passed down in families.
- Intestinal diseases: Enteric hyperoxaluria can be caused by intestinal disorders that increase the absorption of oxalate from food, such as Crohn's disease or short bowel syndrome.
- High oxalate diet: Consuming a diet high in oxalate-rich foods can contribute to developing hyperoxaluria. Some foods that are high in oxalate include spinach, beet greens, sweet potatoes, rhubarb, and nuts.
- Reduced kidney function: People with decreased kidney function or kidney damage may be at a higher risk of developing hyperoxaluria due to the kidneys' inability to effectively remove excess oxalate from the body. It is important to note that the precise risk factors may vary from person to person, and having one or more risk factors does not necessarily mean a person will develop hyperoxaluria.
Development
Primary hyperoxaluria develops due to a genetic mutation, which leads to an insufficient amount of a specific protein that regulates oxalate production or impaired functioning of the protein. This causes excess oxalate to accumulate in the urine, potentially forming kidney stones and damaging the kidneys. In some cases, it can lead to kidney failure. Enteric hyperoxaluria, on the other hand, is caused by intestinal issues that increase oxalate absorption from food. This can result in higher levels of oxalate in the urine. Examples of such intestinal problems include Crohn's disease and short bowel syndrome. In both cases, if left untreated, hyperoxaluria can cause complications such as oxalosis, which involves the buildup of oxalate in various organs and tissues, leading to a range of health problems beyond kidney issues.
Assessment and Diagnosis
Triage
If you suspect hyperoxaluria, it's important to see a doctor for a checkup. This should include a test that measures oxalate in the urine. This is especially important for young people who have kidney stones, as kidney stones in children and teenagers are often caused by a health problem like hyperoxaluria. Additionally, adults who keep getting kidney stones should also be tested for oxalate in the urine.
Diagnosis
Hyperoxaluria can be diagnosed through a combination of physical exams, urine tests, blood tests, and imaging tests. Urine tests measure oxalate levels in the urine, while blood tests check kidney function and oxalate levels in the blood. Stone analysis can determine the composition of kidney stones, and imaging tests like X-rays, ultrasounds, or CT scans can detect calcium oxalate buildup in the body. DNA testing and genetic counseling may also be necessary to identify the gene changes that cause primary hyperoxaluria. Your doctor may recommend additional tests like kidney biopsy, echocardiogram, eye exam, bone marrow biopsy, or liver biopsy in rare cases. It's essential to consult with a medical professional for an accurate diagnosis and appropriate treatment plan.
Management and Treatment
Complications
Primary hyperoxaluria, if left untreated, can lead to kidney failure, where the kidneys may stop working. Complications of hyperoxaluria include kidney damage, oxalosis, bone disease, anemia, skin ulcers, heart and eye problems, and in children, difficulty in growing and developing. Oxalosis happens when the kidneys stop working well, causing oxalate buildup in the blood, which can lead to problems in blood vessels, bones, and organs.
Home Remedies
It is important to consult a healthcare professional for proper diagnosis and treatment recommendations for hyperoxaluria.
Treatment
Treatment for hyperoxaluria depends on the type, severity, and symptoms of the condition. Your healthcare provider may recommend a combination of medications, dietary changes, and other therapies to manage hyperoxaluria. Some possible treatments include:
- Medications: Lumasiran (Oxlumo) can help lower oxalate levels in primary hyperoxaluria patients. Prescription vitamin B-6 (pyridoxine) might reduce oxalate in urine for some people. Phosphates and citrate prescribed by a pharmacist and taken orally can prevent calcium oxalate crystals from forming.
- Dialysis and transplants: If your kidneys are not functioning well due to hyperoxaluria, dialysis can help with some of the kidney work. Kidney or kidney-liver transplants may be necessary for primary hyperoxaluria, and a liver transplant may be the only cure for some types of primary hyperoxaluria.
- Dietary changes: If you have enteric or diet-related hyperoxaluria, your healthcare team may suggest limiting foods high in oxalates, reducing salt intake, and consuming less animal protein and sugar. These changes may help lower oxalate levels in urine.
- Kidney stone management: Kidney stones are common in people with hyperoxaluria, but they may not always require treatment. If large kidney stones cause pain or block urine flow, they may need to be removed or broken up. Your doctor may also prescribe other medications, such as thiazide diuretics, based on any unusual findings in your urine.
- Fluids: Drinking plenty of fluids, such as water, can help flush out your kidneys, prevent oxalate crystal buildup, and reduce the formation of kidney stones. It is essential to follow your healthcare team's recommendations and maintain regular appointments to manage hyperoxaluria effectively.
Preparing for medical consultation
To prepare for an appointment for hyperoxaluria, you should:
- Ask if there are any pre-appointment restrictions or instructions, such as dietary changes or fasting before specific tests.
- Make a list of your symptoms, even if they seem unrelated to hyperoxaluria.
- Write down key personal information, including major stresses or recent life changes.
- Create a list of all medications, vitamins, or supplements you are taking, including doses.
- Bring a family member or friend with you to help remember important information and act as an advocate.
- Prepare a list of questions to ask your healthcare provider, such as:
- What is likely causing my symptoms?
- Are there any other possible causes for my symptoms?
- Do I need any tests to confirm the diagnosis?
- What is the best course of action or treatment plan?
- Are there any dietary suggestions or restrictions I should follow? Remember to be open and honest with your healthcare provider about your symptoms and medical history, as this will help them provide the most accurate diagnosis and treatment plan.