Cystinosis Essay

671 Words Nov 3rd, 2015 3 Pages
CYSTINOSIS

Genetic information and gene affected
Cystinosis is a rare genetic metabolic disease that causes cystine, an amino acid, to accumulate in lysosomes of various organs of the body such as the kidneys, liver, eyes, muscles, pancreas, brain, and white blood cells. Although cystinosis primarily affects children, a form of the disease also occurs in adults. In cystinosis, the cystine content of cells increases to an average of 50 to 100 times its normal value. This increase is caused by an abnormality in the transport of cystine out of a sac-like compartment of the cell called the lysosome. Because of cystine's low solubility in water, this amino acid forms crystals that accumulate within the lysosomes of cells. The accumulation
…show more content…
Cysteamine treatment also improves growth in children with cystinosis. The growth improvement with cysteamine bitartrate usually allows the patient to maintain growth along a percentile but does not usually aid in achieving "catch-up" growth. Organ transplantation, Kidney transplantation has proven useful in patients with cystinosis. If a patient with cystinosis receives a kidney transplant and reaches adulthood, the new kidney will not be affected by the disease. However, without cysteamine treatment, kidney transplant recipients can develop complications in other organs due to the continued cystine accumulation in the body. These complications can include muscle wasting, difficulty swallowing, diabetes, hypothyroidism, and blindness. Not all older patients, however, develop these symptoms. In both young children with cystinosis and older patients with a kidney transplant, cysteamine eye drops may be useful in removing the corneal cystine crystals and reduce photophobia. However, as of early 2001, the drops have not yet received FDA approval.
Signs and symptoms
Although the symptoms of cystinosis vary, depending on the type of disease present, general symptoms include: * acidosis * dehydration * rickets * growth retardation * renal glomerular failure * corneal ulcerations and retinal blindness * delayed puberty * swallowing difficulties

Related Documents