What is Primary Hyperoxaluria

Primary Hyperoxaluria is a rare genetic disorder characterized by the overproduction of a substance called oxalate in the body. Oxalate is normally filtered by the kidneys and excreted in urine, but individuals with primary hyperoxaluria have a defect in the liver enzyme responsible for breaking down oxalate. As a result, excessive amounts of oxalate accumulate in the kidneys and other organs.

This condition can lead to the formation of kidney stones, which can cause severe pain and potentially damage the kidneys. Over time, the excess oxalate can also build up in other organs, such as the heart and bones, leading to various complications.

Primary hyperoxaluria is typically diagnosed in childhood or adolescence, although it can sometimes be identified in infancy. Treatment options aim to reduce the production and accumulation of oxalate, and may include medications, dietary changes, and in severe cases, liver or kidney transplantation.

Early diagnosis and management are crucial to prevent long-term complications and preserve kidney function in individuals with primary hyperoxaluria.