Cystinosis is a rare genetic disorder that affects the body's ability to transport the amino acid cystine out of cells. This leads to an accumulation of cystine within various organs and tissues, causing a range of symptoms and complications. The severity and progression of symptoms can vary widely among individuals with cystinosis.
Nephropathic cystinosis is the most common and severe form of the disease, primarily affecting the kidneys. Symptoms related to the kidneys may include:
Ocular cystinosis affects the eyes and is typically seen in individuals with nephropathic cystinosis. Eye-related symptoms may include:
Cystinosis can also affect various endocrine glands, leading to hormonal imbalances and related symptoms:
Some individuals with cystinosis may experience musculoskeletal symptoms, including:
In addition to the above, cystinosis can also manifest with other symptoms:
It is important to note that the symptoms and their severity can vary depending on the type of cystinosis an individual has. Nephropathic cystinosis is the most severe form, while non-nephropathic or ocular cystinosis tends to have milder symptoms primarily affecting the eyes.
Early diagnosis and treatment are crucial in managing cystinosis. A healthcare professional should be consulted if any of the above symptoms are observed, especially in children. Genetic testing can confirm the diagnosis, and a multidisciplinary approach involving various specialists is often necessary to provide comprehensive care and support for individuals with cystinosis.