Cystinosis is a hereditary disease which is marked by accumulation of amino acids in the cystine cells due to a defect in cystine transport. The mutation of the CTNS gene causes this condition. The symptoms are usually noticeable within 6-12 months of birth and can cause minor disorders in the renal tract. Later progressive symptoms may gradually arise which can lead to nephrological and neurological disorder. Skin pigmentation, difficulty in swallowing, thinning of hair, thyroid problems and diabetes are some of the symptoms.
HOW IS CYSTINOSIS DIAGNOSED?
In case of heightened conditions, renal transplantation may be necessary.