Nephropathic cystinosis: pathophysiology and effects of treatment

Nephropathic cystinosis is a rare inherited disease characterized by cristallization of cystine in lyzosomes. Cystine accumulation caused the mutations CTNS gene encoding for cystinosine, transporter. Cystinosis commonly affects kidneys leading to renal Fanconi sysnrome during first year life, followed progressive kidney failure that necessitates initiation replacement therapy childhood or adolescence. In adulthood, patients also present with various systemic manifestations including photophobia, hypothyroidism, diabetes mellitus, hypogonadism (in males), myopathy, neurological disorders. Corneal crystal can be detected all slit-lamp examination. A diagnosis confirmed measuring levels white blood cells and genetic testing. Early vital importance given availability cysteamine, specific cystinedepleting therapy, delays onset end-stage extrarenal manifestations.