Cystinosis is a condition characterized by accumulation of the cystine (amino acid) within cells. High amount of cystine damages cells and often forms crystals that can damage tissues and organs. The eyes and kidneys are mainly susceptible to damage; however, the pancreas, muscles, testes, and thyroid can also be affected. Cystinosis is categorized into three different types; nephropathic, non-nephropathic or ocular, and intermediate cystinosis. Nephropathic (infantile) cystinosis is the most severe and common form of cystinosis. Renal Fanconi syndrome and growth failure are usually the first noticeable symptoms of this disorder.
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Intermediate cystinosis is characterized by symptoms similar to that of nephropathic cystinosis. However, these symptoms are not prominent till age of 8-20 years. Non-nephropathic cystinosis generally affects adults during middle age with eye disorder. Kidney disease does not occur in these individuals. Individuals with non-nephropathic cystinosis develop photophobia due to cystine crystal accumulation in the eyes.
All three types of cystinosis occur due to mutations in the CTNS gene. Mutations in CTNS gene cause deficiency of a transporter protein called cystinosin. Cystinosin normally moves cystine out of the lysosomes, which are compartments in the cell that recycle and digest materials. Defects in cystinosin, allows accumulation of cystine and forms crystals in the lysosomes and its buildup damages cells in the eyes and kidneys. According to National Institutes of Health (NIH), cystinosis affects around 1 in 100,000 to 200,000 infants globally. Cystinosis is the most common cause of renal Fanconi syndrome in children and accounts for nearly 5% of all childhood cases of kidney failure. Fanconi syndrome, a rare disorder of kidney tubule function results in excess amounts of potassium, uric acid, glucose, phosphates, bicarbonate, and certain amino acids excreted in the urine. Cysteine depleting therapy can significantly reduce cysteine levels inside the cells. It improves growth and decreases kidney damage in children. Symptomatic therapy treats renal Fanconi syndrome with a high intake of electrolytes and fluids to prevent extreme body dehydration. Sodium bicarbonate, potassium, sodium citrate, and magnesium can help to keep standard electrolyte stability. Acetyl cholinesterase (ACE) inhibitors are also used sometimes to limit the growth of the renal disease.
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