Non‐pulmonary CFTR‐related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis

Abstract Diagnosis and management of CRMS/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. We describe a case of an 18‐year‐old man with p.F508del/p.Arg117His(7T) initially presenting with CRMS/CFSPID. H...

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Bibliografski detalji

Glavni autori:	Stephanie L. Kuek, R. John H. Massie
Format:	Artigo
Jezik:	Inglês
Izdano:	Wiley 2023-01-01
Serija:	Respirology Case Reports
Teme:	CFTR modulators CFTR‐related disease (CFTR‐RD) cystic fibrosis transmembrane conductance regulator‐related metabolic syndrome/cystic fibrosis screen positive inconclusive diagnosis (CRMS/CFSPID) Ivacaftor
Online pristup:	https://doi.org/10.1002/rcr2.1079
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