Hyperoxaluriatyypit

Hyperoxaluriatyypit refers to a group of genetic disorders that cause the body to produce too much oxalate. Oxalate is a substance that is normally eliminated in the urine. When there is too much oxalate, it can bind with calcium in the urine to form calcium oxalate crystals. These crystals can accumulate in the kidneys, leading to kidney stones and kidney damage. In severe cases, this can progress to kidney failure.

There are three main types of primary hyperoxaluria, each caused by a mutation in a different gene. Type 1 is the most common and is caused by mutations in the AGXT gene, which affects the liver. Type 2 is caused by mutations in the GRHPR gene, and Type 3 is caused by mutations in the HOGA1 gene. These genetic defects lead to an overproduction of oxalate in the liver.

Symptoms of hyperoxaluriatyypit vary in severity but typically include recurrent kidney stones, abdominal pain, blood in the urine, and urinary tract infections. As the condition progresses, it can lead to chronic kidney disease and eventually end-stage renal disease, requiring dialysis or a kidney transplant.

Diagnosis involves urine and blood tests to measure oxalate levels, as well as genetic testing to identify the specific gene mutation. Treatment focuses on managing symptoms, preventing kidney stone formation, and slowing the progression of kidney damage. This can include increased fluid intake, dietary modifications to reduce oxalate absorption, and medications. In advanced stages, kidney transplantation is often the only effective treatment.