| Cystinosis is an autosomal recessive disorder. It is caused by mutations in the CTNS gene. |
| Absence of these mutations does not rule out a diagnosis of cystinosis in symptomatic individuals or rule out carrier status in non-symptomatic individuals. |
| Nephropathic cystinosis is a rare, inherited condition caused by a build up of cystine that affects every cell in the body. |
| The beautiful toddler suffers from cystinosis, which attacks the body's cells, causing growth problems and preventing her kidneys from functioning properly. |
| While many medicines are unpleasant to take, the existing drug for cystinosis — Cystagon, from Mylan Inc. — literally stinks. |
| Kelly's son, Daniel, four, has attended the baby hospice since he was diagnosed with Cystinosis at 11-months-old. |
