ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C60 — Disorders of amino acid absorption or transport
5C60.1 — Cystinosis

ICD-11 5C60.1 — Cystinosis

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.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.