摘要As a rare autosomal-recessive metabolic disorder,cystinosis is caused by defective transport of cystine across the lysosomal membrane.[1] Once the diagnosis of cystinosis is confirmed,specific treatment with cysteamine,an aminothiol,should be applied to the patient as soon as possible in order to preserve renal function and improve growth in affected children.[2] Cysteamine is the only specific drug approved by the Food and Drug Administration for cystinosis.Although it cannot reverse the existing kidney damage,it was reported that 17 patients treated with cysteamine for 7 years recovered almost normal kidney function and,more importantly,they grew normally.[3] Another report suggested that cysteamine treatment could postpone end-stage kidney damage for 10-20 years.[4] However,the immediate challenge lies in the access to the necessary medication in China for the management ofcystinosis.Here,we report the case of two sibling boys with cystinosis in order to raise awareness to the international community about the urgent need for worldwide policy and action for such rare diseases.