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La cystinose infantile d\u00e9bute dans la petite enfance par un syndrome de Fanconi et aboutit \u00e0 une d\u00e9t\u00e9rioration progressive de la fonction de la plupart des organes, y compris les reins, les yeux, la thyro\u00efde, les muscles et le pancr\u00e9as, et finit par entra\u00eener une mort pr\u00e9matur\u00e9e. Le traitement par la cyst\u00e9amine ne permet que de retarder la progression de la maladie. Afin de d\u00e9velopper une approche de th\u00e9rapie g\u00e9nique pour la cystinose, un mod\u00e8le murin qui pr\u00e9sente les principales complications de la maladie a \u00e9t\u00e9 d\u00e9velopp\u00e9 gr\u00e2ce \u00e0 l\u2019identification du g\u00e8ne <jats:italic>CTNS<\/jats:italic>, dont le produit, la cystinosine, est un co-transporteur de cystine-protons. Cette revue d\u00e9crit les \u00e9tapes allant de la d\u00e9couverte du g\u00e8ne \u00e0 la th\u00e9rapie g\u00e9nique pour la cystinose, qui a permis de traiter six patients jusqu\u2019\u00e0 pr\u00e9sent.<\/jats:p>","DOI":"10.1051\/medsci\/2023025","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T09:02:31Z","timestamp":1679389351000},"page":"253-261","source":"Crossref","is-referenced-by-count":7,"title":["Cystinose"],"prefix":"10.1051","volume":"39","author":[{"given":"St\u00e9phanie","family":"Cherqui","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2023,3,21]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1046\/j.1523-1755.2000.00250.x","volume":"58","author":"Levy","year":"2000","journal-title":"Kidney Int"},{"key":"R2","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1056\/NEJMra020552","volume":"347","author":"Gahl","year":"2002","journal-title":"N Engl J Med"},{"key":"R3","unstructured":"Gahl WA, Schneider JA, Aula P. 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