Article
Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/CF screen-positive, inconclusive diagnosis.
Pediatric pulmonology - 1 Dec 2021
Terlizzi Vito, Claut Laura, Colombo Carla, Tosco Antonella, Castaldo Alice, Fabrizzi Benedetta, Lucarelli Marco, Cimino Giuseppe, Carducci Carla, Dolce Daniela, Biffi Arianna, Bonomi Paolo, Timpano Silviana, Padoan Rita
Abstract excerpt
BACKGROUND: Reaching early and definitive diagnosis in infants with cystic fibrosis (CF) transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID) is a priority of all CF newborn screening programs. Currently, sweat testing (ST) is the gold standard for CF diagnosis or exclusion. We assessed outcomes in a cohort of Italian CRMS/CFSPID infants who...
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