Juvenile nephropathic cystinosis
Juvenile nephropathic cystinosis
Definition
Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Also known as cystinosis, late-onset juvenile or adolescent nephropathic, intermediate cystinosis, juvenile cystinosis, juvenile nephropathic cystinosis — per MONDO