Primary hyperoxaluria

Primary hyperoxaluria (PH) comprises a group of autosomal recessive disorders affecting glyoxylate metabolism, leading to excessive endogenous oxalate production. This oxalate can accumulate in the kidneys, forming stones and causing kidney damage, eventually resulting in kidney failure. When kidney function drops below a certain level, the body can't eliminate oxalate effectively, leading to oxalate buildup in various tissues, causing severe multi-organ damage. PH has three distinct types, with PH1 being the most common and having the poorest prognosis. Early diagnosis and management of these conditions can be challenging.1