HIGHLIGHTS
SUMMARY
Cystic fibrosis (CF) is a multisystem disease caused by variants causing deficient or dysfunctional CF transmembrane conductance regulator (CFTR) protein. In individuals presenting with a positive newborn bloodspot screening (NBS), i.e., with an immunoreactive trypsinogen above the cut-off, clinical features consistent with CF, or a positive family history, a diagnosis of CF can be made if the sweat chloride (SC) value is ≥60 mmol/L or in presence of 2 CFTR causing variants. Of 15 Last BMI-Weight for Length Pc × Last FEV1 Last SC Value Diagnosis/Label at Study End Inconclusive . . .
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