Cystinosis

*Definition*

Cystinosis (Fanconi syndrome) is a hereditary disease caused by impaired excretion of cystine, accompanied by severe damage to the reticuloendothelial system and the formation of liver cirrhosis. Cystinoses include more than 50 genetic forms of the disease (Danoff disease species), spanning many subtypes, typically affecting Asians and blacks. Because the symptoms of many Danoff syndromes are similar, it is very difficult to accurately diagnose and distinguish one from another.

Cystinosis is a hereditary disorder of amino acid metabolism, which is accompanied by excessive production of histamines and enzymes responsible for their breakdown. The mechanism of development of the disease was studied in detail in the 60s of the 20th century. Scientists were able to identify a hereditary connection of the disease with the complete or partial absence of the gene encoding the urea cycle enzyme (cystaminase).

In cystinosis, protein metabolism is impaired. Due to the accumulation of pathological accumulations in the body, various symptoms appear. When diagnosed with cystinosis, difficulties with your general health may arise. The disease causes problems with the functioning of various organs and systems. The metabolism of glutamine and cystine is also disrupted, which affects the formation of proteins and the metabolism of amino acids.

Depending on the manifestations of the hereditary disease, a urological disorder can develop at almost any age, but children are most often affected. The prevalence of the congenital process varies around the world from 1 to 14 cases per 50,000