hyperoksalauria

Hyperoxaluria is a medical condition characterized by the presence of excessive oxalate in the urine. Oxalate is a naturally occurring substance found in many foods, and it is also produced by the liver. In individuals with hyperoxaluria, the body either produces too much oxalate or does not properly excrete it, leading to elevated levels in the urine.

There are three main types of hyperoxaluria: primary, secondary, and enteric. Primary hyperoxaluria is a rare, inherited disorder caused by mutations in specific genes that affect oxalate metabolism. There are three types of primary hyperoxaluria, designated as type 1, type 2, and type 3, each caused by different genetic mutations. Secondary hyperoxaluria occurs due to increased oxalate absorption from the gut, often as a result of conditions like inflammatory bowel disease or malabsorption syndromes. Enteric hyperoxaluria is a specific type of secondary hyperoxaluria that occurs due to fat malabsorption, which increases the absorption of oxalate in the intestines.

The excessive oxalate in the urine can lead to the formation of kidney stones, which are a common symptom of hyperoxaluria. These stones can cause pain, blockages, and kidney damage. In severe cases, the condition can progress to kidney failure. Other symptoms may include blood in the urine, frequent urinary tract infections, and pain in the back or side.

Diagnosis of hyperoxaluria typically involves measuring oxalate levels in the urine. Genetic testing can confirm the diagnosis of primary hyperoxaluria. Treatment aims to reduce oxalate levels and prevent complications. This may include a diet low in oxalate, increased fluid intake to dilute urine, and medications to bind oxalate in the gut. In severe cases, particularly in primary hyperoxaluria, kidney transplantation or a combined liver-kidney transplant may be necessary.