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ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.
Sermet-Gaudelus, I; Girodon, E; Vermeulen, F; Solomon, G M; Melotti, P; Graeber, S Y; Bronsveld, I; Rowe, S M; Wilschanski, M; Tümmler, B; Cutting, G R; Gonska, T.
Afiliación
  • Sermet-Gaudelus I; Centre de Reference Maladies Rares Mucoviscidose et Maladies Apparentées, Hôpital Necker Enfants Malades, Paris, France; INSERM U 1151, Institut Necker Enfants Malades, Paris, France; Pediatric Pulmonology, University Hospital UZ Leuven, Gasthuisberg, Leuven, Belgium. Electronic address: isabelle.se
  • Girodon E; INSERM U 1151, Institut Necker Enfants Malades, Paris, France; APHP Centre, Service de Médecine Génomique des Maladies de Système et d'Organe, Hôpital Cochin, Université de Paris, Paris, France.
  • Vermeulen F; CF Centre, University Hospital, Gasthuisberg, Leuven, Belgium.
  • Solomon GM; Department of Internal Medicine, Division of Pulmonary, Allergy, and Critical Care Medicine and the Gregory Fleming James CF Research Center, University of Alabama at Birmingham, Birmingham, AL USA.
  • Melotti P; Cystic Fibrosis Centre, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
  • Graeber SY; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine and Cystic Fibrosis Center, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; German Center for Lung Research (DZL), Associated Pa
  • Bronsveld I; University Medical Centre Utrecht, Utrecht, the Netherlands.
  • Rowe SM; Departments of Medicine, Pediatrics, and Cell Developmental and Integrative Biology, The Gregory Fleming James CF Research Center, University of Alabama, Birmingham, AL, USA.
  • Wilschanski M; Hadassah Hebrew University Medical Center, Jerusalem, Israel.
  • Tümmler B; Klinik für Pädiatrische Pneumologie, Allergologie und Neonatologie, Medizinische Hochschule Hannover, Hannover, Germany; Biomedical Research in Endstage and Obstructive Lung Disease Hannover (BREATH), German Center for Lung Research, Hannover Medical School, Germany.
  • Cutting GR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Gonska T; Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.
J Cyst Fibros ; 21(6): 922-936, 2022 11.
Article en En | MEDLINE | ID: mdl-36207272
The spectrum of disorders involving CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction correlates with a continuous gradient of CFTR function defined by the combination of two allelic CFTR variants. CFTR-related disorders are clinical entities with features of cystic fibrosis (CF) and evidence for presence of CFTR dysfunction but not meeting criteria for diagnosis of CF. Individuals with CFTR-RDs demonstrate a wide range of CFTR activity and are still under-recognized or misclassified. The level of CFTR dysfunction may be measured in vivo (sweat testing, nasal potential difference measurements) and/or by ex vivo tests (intestinal current measurement), or indirectly indicated by CFTR variants, as alteration in sequence of the CFTR gene translates into CFTR dysfunction. CFTR bioassays can aid in the diagnosis of individuals with CF, but we lack parameters to differentiate CF from CFTR-RD. In the era of the CFTR modulators and their potential clinical benefit, it is of utmost importance to diagnose CFTR-RD as unambiguously as possible. We therefore propose the following to define compatible CFTR dysfunction in a person with a suspected diagnosis of CFTR-RD : (1) evidence of CFTR dysfunction in vivo or ex vivo in at least two different CFTR functional test types, or (2) One CFTR variant known to reduce CFTR function and evidence of CFTR dysfunction in vivo or ex vivo in at least two different CFTR functional test types, or (3) Two CFTR variants shown to reduce CFTR function, with at most one CF-causing variant.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: J Cyst Fibros Año: 2022 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Guideline Límite: Humans Idioma: En Revista: J Cyst Fibros Año: 2022 Tipo del documento: Article Pais de publicación: Países Bajos