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Nasal Polyps Leading to Newly Diagnosed Cystic Fibrosis in an Adolescent
- Noelia Swymeler
- Darby Sparks
- Michelle Escala
- Susan Studebaker
- Michelle Condren, PharmD
- Joseph Walter
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Introduction:
Cystic Fibrosis (CF) is a genetic disorder characterized by various pathogenic mutations in the CFTR gene, typically diagnosed by newborn screening. We present a case in which two rare CFTR mutations eluded routine newborn screening but were identified during the investigation of multiple nasal polyps, emphasizing the importance of remaining vigilant in the face of atypical clinical …
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