Primary oxalurias are a group of inherited metabolic disorders characterized by the overproduction and accumulation of oxalate in the body. Oxalate is a natural substance that is normally excreted by the kidneys in urine, but individuals with primary oxalurias do not properly eliminate oxalate, leading to its build-up in various organs and tissues.
There are three types of primary oxalurias: type 1, type 2, and type 3. Type 1 is the most common and severe form, caused by a deficiency in the enzyme alanine-glyoxylate aminotransferase (AGT). Type 2 is caused by a deficiency in the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR), and type 3 is caused by a deficiency in the enzyme 4-hydroxy-2-oxoglutarate aldolase (HOGA1).
The excessive accumulation of oxalate in the body can lead to the formation of calcium oxalate crystals, which can deposit in the kidneys and urinary tract, causing kidney stones, urinary tract infections, and eventually kidney damage. Primary oxalurias can also affect other organs, such as the heart, eyes, bones, and blood vessels.
Symptoms of primary oxalurias may include recurrent kidney stones, blood in urine, urinary tract infections, abdominal pain, low urine output, and decreased kidney function. Diagnosis is typically made through clinical evaluation, urine and blood tests, genetic testing, and imaging studies.
Treatment for primary oxalurias aims to reduce the production and accumulation of oxalate in the body. This may involve dietary restrictions, such as avoiding high-oxalate foods and increasing
