Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Objective Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator ( CFTR ) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria. Study design To impro...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	The Journal of pediatrics 2017-02, Vol.181, p.S4-S15.e1
Hauptverfasser:	Farrell, Philip M., MD, PhD, White, Terry B., PhD, Ren, Clement L., MD, Hempstead, Sarah E., MS, Accurso, Frank, MD, Derichs, Nico, MD, Howenstine, Michelle, MD, McColley, Susanna A., MD, Rock, Michael, MD, Rosenfeld, Margaret, MD, MPH, Sermet-Gaudelus, Isabelle, MD, PhD, Southern, Kevin W., MBChB, PhD, Marshall, Bruce C., MD, Sosnay, Patrick R., MD
Format:	Artikel
Sprache:	eng
Schlagworte:	CF-screen positive, inconclusive diagnosis CFTR-related metabolic syndrome Cystic Fibrosis - diagnosis Humans immunoreactive trypsinogen Infant, Newborn intestinal current measurement nasal potential difference Neonatal Screening newborn screening pancreatitis associated protein Pancreatitis-Associated Proteins Pediatrics sweat test
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!