The primary hyperoxaluria of type 1 is a genetic disease that affects the functions of metabolism. It causes the accumulation of calcium oxalate in the tissues, causing dysfunctions in different organs. Among the possible consequences there are optic atrophy, arrhythmias, neuropathy, fractures. Diagnosis usually occurs by means of urinalysis, which show high levels of calcium oxalate.
The oxalate deposition in the kidneys causes the formation of very painful kidney stones. The calculations are recurrent and cause urinary tract infections, as well as permanent damage. They are one of the first symptoms that manifests itself, usually before age 5. If not taken in time, it can lead to renal failure and affect the functionality of the kidneys in a definitive way. The most severe forms of hyperoxaluria affect not only the kidneys, but also the bones and the retina.
The risks for renal function make primary hyperoxaluria a disease with a high mortality rate. 50% of patients are likely to have a renal failure before age 15, 80% before 30. In addition, those who suffer often manifest crystallization in the bones, eyes and heart. This is why heart disease and related deaths are common.
The diagnosis of primary hyperoxaluria occurs by measuring calcium oxalate levels in the urine and blood. Genetic tests are also performed and, in the case of healthy carriers, prenatal diagnosis.
The only therapies available today include the administration of calcium salts and constant hydration. In this way the accumulation of oxalate in the tissues is reduced. In some cases, there is a combination of liver and kidney transplantation, especially in children. Unfortunately, only kidney transplantation is not able to correct the disease, which then reoccurs.