Цистиноз (Cystinosis)

Cystinosis is a rare inborn error of amino acid metabolism that results in abnormally high levels of the amino acid cystine in the blood, kidneys and lymphatic system. This leads to a gradual accumulation of cystine in various tissues of the body, especially the kidneys, eyes and brain, which can lead to serious health problems.

Cystinosis is a hereditary disease that is passed on to children from parents. The disease can appear at any age, but symptoms usually begin in childhood, around 6 months to 2 years of age.

One of the main signs of cystinosis is Fanconia syndrome, which manifests itself in the form of damage to kidney tissue. This can lead to problems with kidney function, such as decreased urine volume and increased protein levels. In addition, cystinosis can lead to other health problems such as vision loss, growth and development delays, and cardiovascular problems.

Treatment for cystinosis is aimed at reducing the amount of cystine in the body. This can be achieved by taking medications that help reduce the levels of cystine in the blood and urine. A kidney transplant may also be required to replace damaged kidney tissue.

Overall, cystinosis is a serious disease that requires long-term treatment and medical supervision. However, with early diagnosis and treatment, people suffering from this disease can live full lives.

Cystinosis is a congenital disorder of amino acid metabolism in which the blood, kidneys and lymph nodes contain abnormally high amounts of the amino acid cystine. This leads to various symptoms, including kidney and skin problems, and stunted growth in children.

Cystinosis is one of many inherited metabolic disorders. It occurs when the body cannot properly metabolize cystine, an amino acid found in proteins. As a result, cystine accumulates in tissues and organs, leading to various symptoms.

One of the most common symptoms of cystinosis is kidney failure. This occurs because excess cystine accumulates in the kidneys, leading to cell damage and impaired kidney function.

Cystinosis can also cause skin problems. Excess cystine can cause crystals to form in the skin, which can cause itching and redness. In addition, cystinosis can lead to heart and lung problems, as well as decreased immunity.

Treatment for cystinosis usually involves taking special medications that help reduce the level of cystine in the body. Diets that limit the consumption of foods containing cystine may also be prescribed.

In general, cystinosis is a serious hereditary disease that requires constant medical monitoring and treatment. However, thanks to modern treatments, many people with cystinosis can lead normal lives and enjoy healthy longevity.

Cystinosis is a congenital disorder of amino acid metabolism, leading to abnormally high levels of the amino acid cystine in the blood, kidneys and lymphatic system. This rare genetic disease belongs to the group of lysosomal storage diseases and affects various organs and systems of the body.

One of the main characteristics of cystinosis is the accumulation of cystine in various tissues and organs. Cystine is a special amino acid formed as a result of a metabolic process. Typically, cystine is cleared from cells and excreted through the kidneys in the urine. However, in patients with cystinosis, this process is impaired due to a defect in the transport system responsible for removing cystine from cells. As a result, cystine accumulates in various organs and tissues, which leads to gradual damage to these organs.

The main manifestations of cystinosis usually begin in early childhood. The most serious consequence of the disease is kidney damage, which can lead to chronic renal failure. Other organs such as the liver, spleen, eyes, brain and muscles may also be affected. Patients with cystinosis often have a range of characteristic symptoms, including growth and development problems, muscle weakness, photophobia, progressive vision loss, increased vulnerability to infections, and various kidney problems.

Treatment for cystinosis is aimed at reducing cystine levels in the body and preventing progression of organ damage. The main method of treatment is the systematic use of the drug cysteamine, which helps reduce the accumulation of cystine in tissues and organs. Symptomatic therapy is also carried out, aimed at alleviating symptoms and maintaining the normal functioning of organs.

Cystinosis is a rare hereditary disease that requires long-term and complex treatment. Early detection and proper medical care can significantly improve the prognosis and quality of life of patients with this disease. Ongoing medical advice and support from specialists will help manage the effects of cystinosis and provide patients with the best possible care and support.