Primary hyperoxaluria Save

Primary hyperoxaluria (PH) is a rare genetic disorder characterized by the overproduction and accumulation of oxalate in the body, leading to the formation of calcium oxalate crystals in the kidneys and other organs. This can cause kidney damage, recurrent kidney stones, and other complications that can be life-threatening.

PH is caused by mutations in one of several genes involved in the metabolism of glyoxylate, a precursor of oxalate. The most common types of PH are PH type 1, caused by mutations in the AGXT gene, and PH type 2, caused by mutations in the GRHPR gene. Less commonly, PH can be caused by mutations in the HOGA1 gene.

The symptoms of PH can vary depending on the severity of the condition and the age at which it develops. In some cases, symptoms may not appear until later in life. The most common symptoms include recurrent kidney stones, blood in the urine, and pain in the back or side. Other symptoms can include urinary tract infections, kidney failure, and bone pain or fractures.

There is no cure for PH, but treatment can help manage the symptoms and prevent further complications. The mainstay of treatment is to reduce the levels of oxalate in the body, which can be done through a combination of dietary changes and medication.

Dietary changes may include reducing the intake of foods high in oxalate, such as spinach, rhubarb, and chocolate, and increasing fluid intake to help flush out the kidneys. Additionally, some individuals may benefit from a low-protein diet or a vegetarian diet.

Medications that can help reduce the production of oxalate in the body include pyridoxine (vitamin B6), which is used to treat PH type 1, and a combination of calcium citrate and magnesium oxide, which can help bind to oxalate in the digestive tract and prevent it from being absorbed into the bloodstream.

In some cases, individuals with severe PH may require kidney transplantation or combined liver and kidney transplantation. Liver transplantation can be an effective treatment for PH type 1, as the AGXT gene is primarily expressed in the liver.

In conclusion, Primary hyperoxaluria is a rare genetic disorder that can cause serious complications. Treatment focuses on reducing the levels of oxalate in the body through a combination of dietary changes and medication. Early diagnosis and treatment can help prevent the development of kidney damage and other complications associated with PH.