What is Primary Hyperoxaluria (PH1)?
Primary Hyperoxaluria (PH1) is a rare genetic disorder characterized by the overproduction of a substance called oxalate in the body. Normally, oxalate is filtered by the kidneys and eliminated in the urine. However, in individuals with PH1, there is a genetic defect that causes the liver to produce too much oxalate. This excess oxalate cannot be effectively excreted, leading to the formation of kidney stones and the accumulation of oxalate in various organs, including the kidneys, bones, and eyes.
It is estimated that Primary Hyperoxaluria (PH1) affects approximately 1 in 100,000 to 1 in 1,000,000 individuals worldwide. The prevalence may vary across different populations and geographic regions.
What Are the Symptoms Associated with Primary Hyperoxaluria (PH1)?
The symptoms of PH1 can vary from mild to severe and typically develop during childhood or adolescence. Common symptoms include recurrent kidney stones, which can cause severe pain in the back or side, blood in the urine, and frequent urinary tract infections. Over time, the accumulation of oxalate in the body can also lead to kidney damage, chronic kidney disease, and even end-stage renal failure.
How is Primary Hyperoxaluria (PH1) Diagnosed?
Diagnosing PH1 involves a combination of clinical evaluation, laboratory tests, and genetic testing. Doctors will evaluate the patient's medical history, perform a physical examination, and order blood and urine tests to measure the levels of oxalate and other substances. Additionally, genetic testing can identify mutations in specific genes associated with PH1, such as the AGXT gene. Imaging tests, such as ultrasound or CT scan, may also be used to detect kidney stones or assess kidney damage.
What Are the Treatment Options for Primary Hyperoxaluria (PH1)?
Currently, there is no cure for PH1, but treatment aims to manage symptoms, prevent complications, and reduce the production or absorption of oxalate in the body. This may involve a combination of medication, dietary changes, and in some cases, surgical interventions. Medications such as pyridoxine (vitamin B6) may help reduce oxalate production in some patients. Additionally, dietary modifications, including a low-oxalate diet and increased fluid intake, can help prevent the formation of kidney stones. In severe cases, where kidney function is significantly impaired, kidney transplantation may be necessary.
