Cystinosis
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. it is for a genetic disorder that follows an autosomal recessive inheritance pattern. it is for a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes, eventually leading to intracellular crystal outline throughout the body. Cystinosis is the near common draw of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, leading to abnormal amounts of carbohydrates in addition to amino acids in the urine, excessive urination, & low blood levels of potassium and phosphates.
Cystinosis was the number one documented genetic disease belonging to the house of lysosomal storage disease disorders. Cystinosis is caused by mutations in the CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine. Intracellular metabolism of cystine, as it happens with all amino acids, requires its transport across the cell membrane. After degradation of endocytosed protein to cystine within lysosomes, it is normally transported to the cytosol. But whether there is a defect in the carrier protein, cystine is accumulated in lysosomes. As cystine is highly insoluble, when its concentration in tissue lysosomes increases, its solubility is immediately exceeded and crystalline precipitates are formed in most all organs and tissues.
However, the progression of the disease is not related to the presence of crystals in spoke tissues. Although tissue damage might depend on cystine accumulation, the mechanisms of tissue waste are non fully understood. Increased intracellular cystine profoundly disturbs cellular oxidative metabolism and glutathione status, leading to altered mitochondrial energy metabolism, autophagy, and apoptosis.
Cystinosis is commonly treated with cysteamine, which is prescribed to decrease intralysosomal cystine accumulation. However, the discovery of new pathogenic mechanisms and the coding of an animal framework of the disease may open possibilities for the developing of new treatment modalities to modernization long-term prognosis.