Cystinosis is a rare genetic disorder characterized by the accumulation of the amino acid cystine within cells throughout the body. It is estimated to affect approximately 1 in 100,000 to 200,000 individuals worldwide. Although it is considered a rare disease, the prevalence may vary among different populations.
Cystinosis is typically diagnosed in early childhood, with symptoms including excessive thirst and urination, growth retardation, and kidney dysfunction. If left untreated, it can lead to severe complications such as kidney failure and vision impairment.
While the exact cause of cystinosis is known to be genetic mutations in the CTNS gene, which affects the transport of cystine out of cells, the condition can be managed with medications that reduce cystine buildup. However, it is important to note that cystinosis is a chronic condition that requires lifelong treatment and monitoring.
Research and awareness efforts are ongoing to improve the understanding and management of cystinosis, as well as to support affected individuals and their families. Early diagnosis and intervention are crucial in providing the best possible outcomes for individuals with cystinosis.
by Diseasemaps