ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria

•This is the introductory article of a series of four on CFTR related disorders.•Diagnosis is made through clinical picture, exclusion of CF and evidence of CFTR dysfunction.•Diagnosis is best made in CF centers.•CFTR-related disorders can present as mono- or poly-organ disease.•Treatment is largely...

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Veröffentlicht in:	Journal of cystic fibrosis 2022-11, Vol.21 (6), p.908-921
Hauptverfasser:	Castellani, C, De Boeck, K, De Wachter, E, Sermet-Gaudelus, I, Simmonds, NJ, Southern, KW
Format:	Artikel
Sprache:	eng
Schlagworte:	CFTR CFTR biomarkers CFTR related disorders CFTR sequence variations Cystic fibrosis Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis - therapy Cystic Fibrosis Transmembrane Conductance Regulator - genetics Cystic Fibrosis Transmembrane Conductance Regulator - metabolism Follow-up Humans Intestinal current measurement Ion Transport Mutation Nasal potential difference Standard of Care Sweat test Treatment
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