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Ivacaftor for the Treatment of Cystic Fibrosis Coexisting with Trisomy 21: A Case Report

The association between cystic fibrosis (CF) and trisomy 21, or Down Syndrome (DS) is rare, and it pertains a poor prognosis with the majority of patients dying in infancy. We report a case of a 28-year-old male with DS and moderate CF (ΔF508/G551D, FEV1 1.92 L, 60% predicted at the age of 18 years)...

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Detalhes bibliográficos
Publicado no:Cureus
Main Authors: Charbek, Edward, Kamel, Ghassan, Nayak, Ravi P
Formato: Artigo
Idioma:Inglês
Publicado em: Cureus 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6919948/
https://ncbi.nlm.nih.gov/pubmed/31890385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.6179
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