The Changing Face of Cystic Fibrosis and Its Implications for Screening

被引:11
|
作者
Naehrlich, Lutz [1 ]
机构
[1] Justus Liebig Univ Giessen, Dept Pediat, D-35392 Giessen, Germany
关键词
cystic fibrosis; newborn screening; diagnosis; therapy; prognosis; IVACAFTOR; PANCREAS; DISEASE; GUIDELINES; EFFICACY; THERAPY; SAFETY; SWEAT; ECFS; GENE;
D O I
10.3390/ijns6030054
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Early diagnosis, multidisciplinary care, and optimized and preventive treatments have changed the face of cystic fibrosis. Life expectancy has been expanded in the last decades. Formerly a pediatric disease, cystic fibrosis has reached adulthood. Mutation-specific treatments will expand treatment options and give hope for further improvement of quality of life and life expectancy. Newborn screening for CF fits perfectly into these care structures and offers the possibility of preventive treatment even before symptoms occur. Especially in countries without screening, newborn screening will fulfill that promise only with increased awareness and new care structures.
引用
收藏
页数:8
相关论文
共 50 条
  • [41] Screening for cystic fibrosis in New York State: considerations for algorithm improvements
    Kay, Denise M.
    Maloney, Breanne
    Hamel, Rhonda
    Pearce, Melissa
    DeMartino, Lenore
    McMahon, Rebecca
    McGrath, Emily
    Krein, Lea
    Vogel, Beth
    Saavedra-Matiz, Carlos A.
    Caggana, Michele
    Tavakoli, Norma P.
    EUROPEAN JOURNAL OF PEDIATRICS, 2016, 175 (02) : 181 - 193
  • [42] Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening
    Munck, Anne
    Bourmaud, Aurelie
    Bellon, Gabriel
    Picq, Paul
    Farrell, Philip M.
    Deneuville, Eric
    Weiss, Laurence
    Reix, Philippe
    Pin, Isabelle
    Darviot, Estelle
    Bui, Stephanie
    Wizla-Derambure, Nathalie
    Chiron, Raphael
    Foucaud, Pierre
    Rames, Cynthia
    Sermet-Gaudelus, Isabelle
    Corvol, Harriet
    Storni, Veronique
    Rault, Gilles
    Languepin, Jane
    Laurans, Muriel
    Couderc, Laure
    Abely, Michel
    PEDIATRIC PULMONOLOGY, 2020, 55 (04) : 918 - 928
  • [43] The impact of newborn screening and earlier intervention on the clinical course of cystic fibrosis
    Dijk, F. Nicole
    Fitzgerald, Dominic A.
    PAEDIATRIC RESPIRATORY REVIEWS, 2012, 13 (04) : 220 - 225
  • [44] Triplet CFTR modulators: future prospects for treatment of cystic fibrosis
    Chaudary, Nauman
    THERAPEUTICS AND CLINICAL RISK MANAGEMENT, 2018, 14 : 2375 - 2383
  • [45] Parental support for newborn screening for cystic fibrosis
    de Monestrol, Isabelle
    Brucefors, Agneta Bergsten
    Sjoberg, Birgitta
    Hjelte, Lena
    ACTA PAEDIATRICA, 2011, 100 (02) : 209 - 215
  • [46] Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results
    MacLean, Joanna E.
    Solomon, Melinda
    Corey, Mary
    Selvadurai, Hiran
    JOURNAL OF CYSTIC FIBROSIS, 2011, 10 (05) : 333 - 337
  • [47] Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report
    Comeau, Anne Marie
    Accurso, Frank J.
    White, Terry B.
    Campbell, Preston W., III
    Hoffman, Gary
    Parad, Richard B.
    Wilfond, Benjamin S.
    Rosenfeld, Margaret
    Sontag, Marci K.
    Massie, John
    Farrell, Philip M.
    O'Sullivan, Brian P.
    PEDIATRICS, 2007, 119 (02) : E495 - E518
  • [48] Rates of adverse and serious adverse events in children with cystic fibrosis
    Pittman, Jessica E.
    Khan, Umer
    Laguna, Theresa A.
    Heltshe, Sonya
    Goss, Christopher H.
    Sanders, Don B.
    JOURNAL OF CYSTIC FIBROSIS, 2021, 20 (06) : 972 - 977
  • [49] Prevention of chronic infection with Pseudomonas aeruginosa infection in cystic fibrosis
    Zemanick, Edith T.
    Bell, Scott C.
    CURRENT OPINION IN PULMONARY MEDICINE, 2019, 25 (06) : 636 - 645
  • [50] CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine
    Lopes-Pacheco, Miqueias
    FRONTIERS IN PHARMACOLOGY, 2020, 10