Cystinosis

Cystinosis is a rare inherited metabolic condition that causes cystine, an amino acid, to build up in different tissues and organs in an unusual way. This phenomenon happens because the CTNS gene has mutations that change the protein cystinosin, which is in charge of moving cystine out of lysosomes. Cystine builds up and forms crystals that hurt cells and tissues over time if they don't receive the right transportation.

The disease mostly harms the kidneys, which causes Fanconi syndrome, a condition in which the body loses too many important nutrients and electrolytes through urine. If left untreated, this can lead to chronic renal disease and eventually kidney failure. Other common signs are slow growth, photophobia (because cystine builds up in the cornea), hypothyroidism, muscle weakness, and trouble swallowing.

There are three primary forms of cystinosis: nephropathic (infantile), intermediate, and non-nephropathic (ocular). The infantile form is the most severe and prevalent.

To diagnose, you can check the amounts of cystine in white blood cells or do genetic testing. Cysteamine therapy is still the most important part of treatment since it helps lower cystine levels and keep problems from getting worse. Early diagnosis, adequate fluids, and supportive care significantly impact the outcomes and quality of life for those affected.