/nephropathic infantile cystinosis

nephropathic infantile cystinosis

Rare Disease

MONDO:0018467

Also Known As

cystinosis, infantile nephropathicnephropathic infantile cystinosisCTNScystinosin, defect ofcystinosis, atypical nephropathiclysosomal cystine transport protein, defect of

Definition

Nephropathic infantile cystinosis is the most common and severe form 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.