Nephropathic infantile cystinosis
Nephropathic infantile cystinosis
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.
Also known as cystinosis, infantile nephropathic, nephropathic infantile cystinosis — per MONDO