Abstract

CYSTINOSIS: A REVIEW

Avani S. L.*, Catherine Samantha, Sam Jeeva Kumar and Dr. Prasobh G. R.

Abstract

Cystinosis could also be a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is a genetic disorder that follows an autosomal recessive inheritance pattern. It’s a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes, eventually resulting in intracellular crystal formation throughout the body. Cystinosis is that the commonest explanation for Fanconi syndrome within the pediatric age bracket. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, resulting in abnormal amounts of carbohydrates and amino acids within the urine, excessive urination, and low blood levels of potassium and phosphates.[1] Cystinosis is caused by mutations within the CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine. The progression of the disease isn't associated with the presence of crystals in target tissues.[2] Although tissue damage might depend on cystine accumulation, the mechanisms of tissue damage aren't fully understood. Elevated intracellular cystine profoundly makes disturbance in the cellular oxidative metabolism and glutathione status, and thus makes change in mitochondrial energy metabolism, autophagy, and apoptosis. Cysteamine is used to treat cystinosis, which then decrease intralysosomal cystine deposition. However, the discovery of new pathogenic mechanisms and the development of an animal model of the disease may open possibilities for development of new treatment modalities to improve long-term prognosis.[3]

Keywords: Cystinosis, Fanconi syndrome, Cysteamine.