Cystinosis

Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells. Cystinosis also causes complications in other organs of the body. The complications include muscle wasting, difficulty swallowing, diabetes, and hypothyroidism. The incidence of Cytinosis is estimated at one in every 192,000 births.  Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine.
 
There are three forms of Cystinosis. Infantile Nephropathic Cystinosis is the most severe form of the disease. Children with Cystinosis appear normal at birth, but by 10 months of age, they are clearly shorter that others their age. They urinate frequently, have excessive thirst, and often seem fussy. At 12 months, they haven't walked and bear weight only gingerly. One of the major complications of Cystinosis is renal tubular Fanconi Syndrome, or a failure of the kidneys to reabsorb nutrients and minerals. The minerals are lost in the urine and the urinary losses must be replaced. Generally those affected with Cytinosis are picky eaters, crave salt, and grow very slowly.  In people with Intermediate Cystinosis or Juvenile Cystinosis, kidney and eye symptoms typically become apparent during the teenage years or early adulthood. In Benign or Adult Cystinosis, cystine accumulates primarily in the cornea of the eyes.
 
 
Source: Cytinosis Research Network