Juvenile nephropathic cystinosis
ORPHA:411634· ICD-10 E72.0+
Definition
A subtype of cystinosis characterized by an accumulation of cystine in different organs and tissues, particularly in the kidneys and eyes, and that clinically manifests between childhood and adolescence with a slowly progressive proximal tubulopathy and/or proteinuria, and photophobia. Extra-renal manifestations (e.g. hypothyroidism, insulin-dependent diabetes, hepatosplenomegaly, muscular and cerebral involvement) are less severe than in the infantile form of the disease.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood