Cystinosis is an inherited lysosomal storage disorder. It is related to the defective transport of the amino acid cystine out of the lysosomes in the body. This cysteine is not very soluble, and it then crystallises in the cells of the kidneys. This leads to widespread tissue damage as well as organ damage. Early diagnosis and treatment are key to slowing the progression of this disease.
Common symptoms of cystinosis are:
This condition can impact the eyes as well as the kidneys, and those who have been diagnosed with the condition typically have problems with their vision as well. Nephropathic cystinosis usually presents in infancy, and it is the most severe form of the condition.
This is a genetic disease that is caused by a mutation in the genes that allow for the processing of the cysteine amino acid. The only risk factor for this condition is parents who carry the genes for the disorder.
Diagnosis is often made using a variety of tests to confirm that cystinosis is the reason for the patient’s symptoms. Blood tests are used to look for cystine levels that are too high, and blood might also be used for DNA testing to confirm markers for the disease. Urinalysis can tell doctors a lot about kidney function and whether the patient has kidney damage as a result of the condition.
An ultrasound or MRI of the kidneys might need to be performed as well to see if kidney damage is advanced. This condition can impact other organs as well as the kidneys, so organ function tests might be necessary to verify the health of various organs in the body.
Biopsy of the kidneys or other organs might be needed in cases where organ tissue death is suspected. The tissue samples that are removed from the organs that are being examined will be sent to a lab for evaluation of tissue health and the stage of the disease.
There is no cure for this condition, and you cannot prevent diagnosis since it is a genetic disorder. There are treatments that can be used to help those who have been diagnosed with cystinosis. Drugs like Cysteamine are used to deplete the cystine in the cells of the body, which can help to prevent kidney damage and kidney failure.
When the kidneys have been impacted by the disease and are damaged, dialysis might be necessary. Some patients will be able to maintain their health with a combination of the right medications, staying hydrated, and eating a kidney-friendly diet. Over time, however, the condition often progresses. This can mean that some patients will need a kidney transplant in order to treat the condition.