ABCMdb

PMID: 26210165

Kotha K, Szczesniak RD, Naren AP, Fenchel MC, Duan LL, McPhail GL, Clancy JP
Concentration of fractional excretion of nitric oxide (FENO): A potential airway biomarker of restored CFTR function.
J Cyst Fibros. 2015 Nov;14(6):733-40. doi: 10.1016/j.jcf.2015.07.002. Epub 2015 Jul 22., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Gly551Asp Ivacaftor has been studied in children and adults with the G551D CFTR mutation, leading to unprecedented improvements in lung function, weight, and patient symptoms, as well as reductions in sweat chloride [9-11]. Login to comment 17 ABCC7 p.Gly551Asp The use of ivacaftor in patients with the G551D CFTR Abbreviations: ATS, American Thoracic Society; BMI, body mass index; CF, cystic fibrosis; CFTR, cystic fibrosis transmembrane conductance regulator; CI, confidence interval; COPD, chronic obstructive pulmonary disease; FENO, fractional excretion of nitric oxide; FEV1, forced expiratory volume in 1 s; ICS, inhaled corticosteroids; IQR, interquartile range; NO, nitric oxide; PCD, primary ciliary dyskinesia; SD, standard deviation. Login to comment 52 ABCC7 p.Gly551Asp Two patients in Cohort 1 (both with G551D/F508del CFTR genotypes) were prescribed ivacaftor therapy prior to and throughout the four measurements. Login to comment 53 ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn ABCC7 p.Gly178Arg Patients enrolled in Cohort 2 (Fig. 1B) included five CF patients with rare CFTR gating mutations (S549N/S549N in three subjects, G178R/F508del in one subject, and S549R/ F508del in one subject) who were candidates for ivacaftor therapy. Login to comment 123 ABCC7 p.Gly551Asp In addition, the individual FENO levels of the two G551D/F508del subjects on ivacaftor therapy within Cohort 1 (8-13 ppb and 6-13 ppb) did not clearly differ from the FENO values of the entire cohort (10.7-10.9 ppb). Login to comment 154 ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Ser549Asn ABCC7 p.Gly178Arg Genotypes of the five individual subjects were S549N/S549N (CF01-03), S549R/F508del (CF04), and G178R/F508del (CF05). Login to comment