Cystinosis - NORD (National Organization for Rare Disorders) - adult cystinosis symptoms

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Cystinosis - Genetics Home Reference - NIH adult cystinosis symptoms


These symptoms are caused by renal tubular Fanconi syndrome, or a failure of the kidney to reabsorb nutrients and minerals. The minerals are lost in the urine. In Late Onset Cystinosis kidney and eye symptoms typically become apparent during the teenage years or early adulthood. Similar to infantile nephropathic cystinosis but with delayed.

Nephropathic cystinosis is a rare disease that usually appears in infants and children at a young age. It is a life-long condition, but available treatments, such as cysteamine therapy and kidney transplantation, have allowed people with the disease to live longer.

Infantile cystinosis is the most severe and the most common type of cystinosis. Children with nephropathic cystinosis appear normal at birth, but by months of age have symptoms that include excessive thirst and urination and failure to thrive. Children often appear pale and .