Primary Hyperoxaluria is a rare genetic disorder characterized by the overproduction of oxalate, a substance that normally gets eliminated through urine. This condition leads to the accumulation of oxalate crystals in various organs, primarily the kidneys, which can cause severe damage over time.
Estimating the exact prevalence of Primary Hyperoxaluria is challenging due to its rarity and the lack of comprehensive population studies. However, it is considered an extremely rare disease, with an estimated prevalence of 1 to 3 cases per million individuals worldwide. The condition is typically diagnosed in childhood or adolescence, but it can also manifest in adulthood.
Primary Hyperoxaluria is classified into three main types: PH1, PH2, and PH3, each caused by different genetic mutations. PH1 is the most common and severe form, accounting for approximately 80% of cases. PH2 and PH3 are much rarer, with PH2 accounting for around 10-15% of cases and PH3 being the least common.
Early diagnosis and appropriate management are crucial in Primary Hyperoxaluria to prevent the progression of kidney damage and associated complications. Treatment options may include medications, dietary modifications, and in severe cases, liver or kidney transplantation.