Primary Hyperoxaluria

What Is Primary Hyperoxaluria Type 1?

            Having a healthy body and mind is indeed a blessing in disguise. People often take it for granted until it is too late. It is important to take care of your health so that you can have a fulfilling life and be able to do many things in life. However, not everyone may be lucky enough to have a healthy state of physical and mental health. Although there are many diseases or medical conditions in the world, not every one of them is common and easy to understand. One of the rare medical conditions that may seem new to you is Primary Hyperoxaluria Type 1 (PH1).

            PH1 is a rare disorder that mainly affects the kidney. PH1 affects only 1 in 58 000 people. This condition led to build-up of a substance known as oxalate. Oxalate is a substance normally filtered by the kidney before it is removed into the urine. However, in PH1, oxalate binds with calcium to form calcium oxalate stones which is the main component for kidney and bladder stones. PH1 affects the way the body converts food into energy. In other words, PH1 affects the body metabolism.

            PH1 is caused by genetic mutations. This results in the body not having the specific enzyme to keep the oxalate level stable in the body. In PH1, there is mutation in the alanine-glyoxylate aminotransferase (AGXT) gene. This then led to accumulation of glyoxylate which is then converted to oxalate. Thus, oxalate is combined with calcium in the urine to form crystals or stones. Unfortunately, the kidney is not able to remove these crystals and ultimately cause kidney damage and other organs.

            Symptoms of PH1 vary from mild to severe. Symptoms can affect any age ranging from infancy to early adulthood. In very early age that is called infantile oxalosis, they usually have severe symptoms before 6 months of age. These children do not grow as other healthy children could such as having insufficient weight gain and have serious crystals build-up in the kidney plus the urinary tracts such as bladder. Most people with PH1 usually show signs in childhood or early teenager with repeated stones in the kidney or along the urinary tract. Some may not even know they have this disease until they reach adulthood and only know this issue when they keep facing problems with kidney stones. Milder forms of PH1 have no symptoms for over 40 to 50 years.

            PH1 is more than just kidney stones. It does lead to kidney damage. Furthermore, it does affect other organs as well. As kidney function deteriorates and is unable to eliminate the oxalate, this will result in the rise of the oxalate level in the blood. The high concentration of the oxalate in the blood will lead to the substance to be deposited in the tissues throughout the body, typically the bone and wall of blood vessels. Oxalosis in bones can cause fractures. In the later stage of PH1, besides the broken bones, it can lead to irregular heartbeat, eye disease, strokes, enlarged liver or peripheral neuropathy. The many symptoms show that it is indeed a part of metabolic disorders caused by genetic problems.

       Diagnosing a rare disease is never an easy task. In the case of PH1, to confirm if a person has this disease, genetic testing for AGXT mutation will be carried out. Before such testing is done, doctors will examine the patient’s family history and physical examinations apart from symptoms complaints by patients. Blood test, urine test and imaging test such as X-rays or ultrasounds can detect the oxalate levels in blood, possible kidney stones and evaluate kidney function. Beside genetic testing to make sure there are the genetic mutations, biopsy procedure is usually done to detect if PH1 has affected the whole body. Eye exam and echocardiogram can show signs for eye disease and heart problems respectively.

       A person diagnosed with PH1 may feel like the world is ending but there are treatments available to help them have a good life. Treatments aim to decrease calcium oxalate from build-up and to preserve kidney function. Medications such as vitamin B6 and lumasiran help to lower oxalate levels. In severe cases, kidney dialysis or transplantation is recommended to keep the oxalate level low.

       Beside treatments, people with PH1 have to keep their body hydrated by drinking plenty of plain water. This will also help from the accumulation of oxalates. However, this may not be the case for those with kidney failure. Thus, patients need to talk with their doctor first before doing this. It is also best for patients to avoid taking too much vitamin C as it will turn into oxalate in the body. People with PH1 may want to try eating more calcium-rich food to lower oxalate levels in the body.  Again, do talk with your doctor before taking any supplements or eating food in big amounts especially oxalate-rich food.

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