Cystinosis is a rare genetic disorder characterized by the accumulation of the amino acid cystine within the cells of the body. This condition is caused by a mutation in the CTNS gene, which leads to impaired transport of cystine out of the lysosomes, resulting in its buildup. Over time, this excess cystine forms crystals that can damage various organs and tissues, including the kidneys, eyes, muscles, and central nervous system.
Synonyms for cystinosis:
1. Nephropathic cystinosis: This term specifically refers to the manifestation of cystinosis in the kidneys, which is the most common and severe form of the disorder. It highlights the primary impact on renal function.
2. Cystine storage disease: This term emphasizes the abnormal accumulation of cystine within cells, highlighting the underlying metabolic dysfunction.
3. Lysosomal cystine storage disease: This synonym highlights the specific location of cystine accumulation within the lysosomes, which are cellular compartments responsible for waste disposal.
4. Cystinosin deficiency: This term focuses on the genetic cause of cystinosis, highlighting the absence or dysfunction of the cystinosin protein encoded by the CTNS gene.
5. Infantile cystinosis: This synonym refers to the early onset of cystinosis symptoms during infancy, typically within the first year of life. It underscores the age of onset and severity of the condition.
It is important to note that cystinosis is a chronic and progressive disorder that requires lifelong management. Early diagnosis and treatment are crucial to prevent or minimize complications. Treatment options include cystine-depleting medications, such as cysteamine, which help reduce cystine accumulation and slow disease progression. Additionally, supportive therapies may be employed to manage specific organ involvement, such as kidney transplantation for end-stage renal disease.
If you suspect cystinosis or have concerns about related symptoms, it is essential to consult with a healthcare professional for proper evaluation, diagnosis, and management.