How does cystinosis affect the body?
In people with cystinosis, a buildup of cystine can lead to the formation of crystals. Cystinosis can impact many parts of the body, including the eyes, muscles, brain, heart, white blood cells, thyroid, and pancreas. Cystinosis can also cause serious problems with the kidneys.
What is the life expectancy of someone with cystinosis?
Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important.
What are the symptoms of cystinosis?
Disease at a Glance Early symptoms include poor feeding, vomiting, and dehydration. Kidney problems and vision problems may also develop. The adult form of Cystinosis primarily affects the eyes, causing light sensitivity.
Is cystinosis a metabolic disorder?
Cystinosis is a metabolic disorder due to defective lysosomal transport of cystine characterized by accumulation of cystine crystals in various organs. It is an autosomal recessive disorder associated with mutations of CTNS gene, encoding a lysosomal transport protein named cystinosin[1].
Is cystinosis curable?
Individuals with cystinosis generally respond very well to a kidney transplant, which can cure renal Fanconi syndrome because cystine does not accumulate in the donated kidney. However, cystine still accumulates in other tissues and organs of the body.
Does cystinosis affect the brain?
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein. Cystine accumulates in cells throughout the body and causes progressive damage to multiple organs, including the brain.
Can cystinosis be cured?
What type of doctor treats cystinosis?
A nephrologist is a specialist in kidney disease and is the primary healthcare provider for cystinosis patients.
Does cystinosis affect the face?
Also known as ocular or “benign” cystinosis, this form usually affects adults during middle age; it was once called adult cystinosis. Kidney disease does not occur in these individuals. The disorder appears to affect only the eyes.
Does cystinosis cause kidney stones?
Excessive amounts of cystine can damage cells, and form crystals that build up and damage various organs and tissues, including the kidneys, eyes, liver, thyroid, muscles, pancreas, brain and white blood cells. Depending on the type, cystinosis that is not treated can result in kidney failure.