Oxalosis

Oxalosis is an inborn error of metabolism in which oxalate deposits form in the kidneys and urinary tract, ultimately leading to the development of kidney failure in humans.

With oxalosis, the metabolism of oxalates - oxalic acid salts - is disrupted. Normally, oxalates are excreted from the body in the urine, but in this disease their excretion is impaired and they are deposited in the form of crystals in the kidney tissue. Over time, these deposits lead to the development of nephrolithiasis, inflammatory changes in the kidneys and disruption of their function.

Oxalosis is caused by mutations in genes encoding enzymes involved in oxalate metabolism. The disease is usually diagnosed in childhood or young adulthood, when symptoms of kidney damage appear. To confirm the diagnosis, urine and blood tests and kidney imaging studies are performed.

Treatment for oxalosis is aimed at slowing the progression of the disease and preventing the development of kidney failure. A diet with limited oxalates, plenty of fluids, and medications are used. If end-stage renal failure develops, hemodialysis or kidney transplantation is performed. The prognosis for oxalosis largely depends on the timeliness of diagnosis and the adequacy of therapy.

Oxalosis is an inborn error of metabolism in which oxalate deposits form in the kidneys and urinary tract, ultimately leading to the development of kidney failure in humans.

With oxalosis, the metabolism of oxalates - oxalic acid salts - is disrupted. Normally, oxalates are excreted from the body in the urine, but in this disease their excretion is impaired and they are deposited in the form of crystals in the kidney tissue. Over time, these deposits lead to inflammatory changes and fibrosis of the kidneys, causing a decrease in kidney function.

Oxalosis is caused by genetic mutations that reduce the activity of enzymes involved in oxalate metabolism. This disease usually appears in childhood or adolescence. The main symptoms are recurrent urolithiasis and pyelonephritis, leading to renal failure.

Diagnosis of oxalosis is based on urine analysis, which reveals elevated oxalate levels. To confirm the diagnosis, a genetic study is performed. Treatment is primarily aimed at slowing the progression of the disease and preventing complications. In severe cases, a kidney transplant may be required.

Oxalosis is one of the genetically determined diseases, which is characterized by the formation of excess amounts of calcium oxalate in the blood. In this article we will look at what kind of disease this is, what causes it, how it is diagnosed and treated. We will also list measures to prevent the development of the disease and prevent its exacerbations.

Oxalosis is a hereditary disease, in men it is transmitted from the father, and not from the mother, as is the case with most other hereditary diseases. Thus, among the male patients, people of European descent predominate. Among the sick are indigenous residents of Central Asia, Arabs, Egyptians and other peoples of the Middle East. Patients develop symptoms during the first two years of life, usually before the age of 5 years. Boys have attacks twice as often as girls, but girls have more repeated attacks. Most cases of the disease first appear as an acute attack. Repeated attacks are much less severe. In many cases, they do not interfere with the performance of patients. But in some cases, chronic renal failure may develop. The mortality rate reaches 80%.

Unlike other genetic metabolic disorders that cause hair loss, the appearance of oxalate stones in the kidneys may not show any symptoms until later in life, until the patient develops kidney failure, at which point they are practically not excreted from the body. Before this stage of the disease, it is not possible to diagnose patients with Oxalase.

Reasons for the development of the disease

The renal tubular threshold for oxalate, due to its acid solubility, is very high. The accumulation of oxalates leads to the formation of stones. If the oxalates in the urine are very concentrated, the person experiences a severe attack that begins with abdominal pain, increased nausea or vomiting. Symptoms such as headache, weakness, a sharp drop in blood pressure and stomach cramps are very common. The disease is characterized by mild pain, heaviness in the lumbar region and increased urination. The stones themselves can