/juvenile nephropathic cystinosis

juvenile nephropathic cystinosis

Rare Disease

MONDO:0009066

Also Known As

cystinosis, late-onset juvenile or adolescent nephropathicintermediate cystinosisjuvenile cystinosisjuvenile nephropathic cystinosiscystinosis, intermediatecystinosis, late-onset juvenile or adolescent nephropathic type

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.