Cystinosis is a genetic disease that leads to metabolic problems. Here the amino acid, cystine, tends to get accumulated in the body and it usually happens in children below 2 years of age. Some of the common symptoms of the same include difficult in swallowing, hypothyroidism and even diabetes.
HOW IS CYSTINOSIS DIAGNOSED?
The diagnosis will be done by a Paediatrician or a general physician. A physical examination based on the symptoms will usually take place before the doctor conducts a gene test to find the faulty carrier gene with the help of a blood sample in a lab test.
HOW IS CYSTINOSIS TREATED?
The only specific treatment for Cystinosis is Cysteamine. Cysteamine is the only drug that slows the progression of Cystinosis by removing the cystine from the cells. Kidney transplantation in patients with infantile Cystinosis corrects kidney failure and prolongs survival. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, kidney specialists (nephrologists), eye specialists (ophthalmologists), digestive disorder specialists (gastroenterologists), psychologists and other healthcare professionals may need to systematically and comprehensively plan an affected child’s treatment.
DID YOU KNOW?
If this problem is not diagnosed and treated properly by the age of 9, it could result to kidney failure and prove to be fatal.