[Cystinosis].
Recent progress of the study of the pathogenesis, diagnosis, and treatment of a lysosomal transport disorder, cystinosis is reviewed. Cystinosis is an autosomal recessively inherited disease that is caused by the accumulation of cystine in lysosome due to lack of the cystine transport system in lysosome. Renal transplantation has been a successful treatment for the cystinosis patients who are in the end stage renal failure, and this therapy has markedly prolonged the life span of cystinosis patients. Recently, oral cysteamine therapy has been successful in the excretion of accumulated cystine in cystinosis patients, and in improving the symptoms. Studies are now under way to see if early (within a month of life) start of cysteamine therapy would achieve the most satisfactory therapeutic effect and maintain normal renal function.
Watanabe
H
H
Department of Glyco Cell Biology, Frontier Research Program, Riken.
Kamoshita
S
S
D000284:Administration, Oral; D003543:Cysteamine / Q000008:administration & dosage; D003553:Cystine / Q000378:metabolism; D003554:Cystinosis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D005123:Eye / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000503:physiopathology; D016030:Kidney Transplantation; D008247:Lysosomes / Q000378:metabolism
D003553:Cystine; D003543:Cysteamine