hyperoksaluriadiagnoosin

Hyperoxaluria refers to a condition characterized by excessively high levels of oxalate in the urine. Oxalate is a naturally occurring compound found in many foods, and it is also produced by the body. When oxalate levels in the urine are too high, it can bind with calcium to form calcium oxalate crystals. These crystals can then accumulate in the kidneys, leading to the formation of kidney stones. Over time, repeated or large kidney stones can cause significant damage to the kidneys, potentially impairing their function and leading to kidney disease.

There are two main types of hyperoxaluria: primary and secondary. Primary hyperoxaluria (PH) is a rare genetic disorder caused by mutations in specific genes that affect oxalate metabolism. This genetic defect leads to overproduction of oxalate by the liver. Secondary hyperoxaluria occurs when there is an excessive intake of oxalate from the diet or when certain medical conditions lead to increased oxalate absorption. For example, conditions affecting the intestines, such as inflammatory bowel disease or short bowel syndrome, can increase oxalate absorption. Certain medications or the consumption of foods high in oxalate can also contribute to secondary hyperoxaluria.

Symptoms of hyperoxaluria are often related to the formation of kidney stones, which can include severe pain in the side and back, blood in the urine, nausea, vomiting, and frequent urination. In individuals with primary hyperoxaluria, the condition can progress to kidney failure if not managed effectively. Treatment strategies depend on the underlying cause and may involve dietary modifications to reduce oxalate intake, increased fluid intake to help flush out crystals, and medications aimed at reducing oxalate absorption or excretion. In severe cases, particularly for primary hyperoxaluria, kidney transplantation may be considered.