Primary hyperoxaluria

Primary hyperoxaluria (PH) can lead to the formation of kidney stones. When oxalate binds to calcium in the urine, calcium oxalate is produced, which is the most common component of kidney stones. Primary hyperoxaluria is a group of rare genetic disorders causing loss of specific enzyme activity. In turn, this leads to the formation of a large amount of oxalate. 3 types of primary hyperoxaluria have been identified. The first type is the most common, occurring in 80 percent of cases. It leads to end-stage renal failure in childhood. The missing enzyme is alanine-glyoxylate aminotransferase (AGT). Type 2 is significantly less common, with a much more favorable prognosis. Adding pyridoxine to therapy improves results. The missing enzyme is glyoxylate reductase/hydroxy pyruvate reductase (GRHPR). Type 3 is considered to have a favorable prognosis, due to mutations in the HOGA1 gene. It rarely leads to end-stage renal failure. In the diagnosis of PH, laboratory tests, imaging and genetic tests are used. The treatment of PH is based on dietary regimen, high doses of pyrodoxine, magnesium-containing preparations, glycosaminoglycans. RNA interference agents have revolutionized treatment. In patients with end-stage chronic renal failure, dialysis is resorted to and an option for liver-kidney transplantation is discussed.