N-acetyl-cysteine is associated to renal function improvement in patients with nephropathic cystinosis

Background Nephropathic cystinosis is an autosomal recessive systemic severe disease characterized by intralysosomal cystine storage. Cysteamine is an essential component of treatment. There is solid evidence that cystine accumulation itself is not responsible for all abnormalities in cystinosis; there is also a deficiency of glutathione in the cytosol. Patients with cystinosis can be more susceptible to oxidative stress. Case-Diagnosis/Treatment The patient cohort comprised 23 cystinosis patients (16 males) aged