Abstract

Cystinosis is a very rare lysosomal, autosomal recessive disease (1/200,000 births) caused by a mutation in the CTNS gene (Chz 17) encoding a protein called cystinosine. The intralysosomal accumulation of cystine induces the formation of insoluble crystals responsible for progressive multiple organ failure. Cystinous nephropathy is manifested by failure to thrive, Fanconi syndrome, damage to the renal glomerulus and manifestations affecting other organs appearing as early as 6 to 12 months of life. The specific treatment for cystinosis is cysteamine. The management is multidisciplinary. We report the case of a boy, a ged 6 years, followed for cystinosis diagnosed at the age of 18 months with polyuropolydipsic syndrome. The patient has been treated with oral cysteamine (Cystagon) since the age of 2 years.