Cystinosis

Description

Cystinosis is a metabolic disease characterised by an accumulation of cystine inside the lysosomes of different tissues due to a defect in cystine transport out of lysosomes. There are three clinical forms : infantile, juvenile and ocular. The infantile form is severe, multisystem disease, with impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, cystine deposits in various organs and progression towards renal failure after 6 years of age. Juvenile cystinosis appear around 8 years of age and has an intermediate clinical picture with end-stage renal disease occurring after the age of 15.The ocular, adult form presents with photophobia.

Exclusions from above levels

• 5C50.3 – Disorders of tryptophan metabolism
• 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
• 5A71.01 – Congenital adrenal hyperplasia