What question did this study set out to answer?

To demonstrate the connection between cystic fibrosis and recurrent pneumonia in adults and the importance of accurate diagnosis.

March 21, 2026Open Access

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Adult Diagnosis of Cystic Fibrosis: A Cause of Recurrent Pneumonia

AEAmira ElsabaghCarilion Clinic ADASHLEY DEANCarilion Clinic ALAnthony LoschnerCarilion Clinic

Puntos clave

To demonstrate the connection between cystic fibrosis and recurrent pneumonia in adults and the importance of accurate diagnosis.
Patient evaluation for recurrent pneumonia
Genetic testing for cystic fibrosis mutations
Treatment with Trikafta pyrrolidine
Patient was diagnosed with compound heterozygous mutations leading to cystic fibrosis
Treatment with Trikafta improved lung function and symptoms
Case emphasizes need for a broad differential diagnosis for respiratory infections in adults

Resumen

We describe a patient presenting for evaluation of nearly annual pneumonias since the age of 9 years, eventually requiring multiple hospitalizations. Genetic testing revealed compound heterozygous mutations for 2184insA and L206W, indicative of cystic fibrosis. The patient received Trikafta (combination of ivacaftor, tezacaftor, and elexacaftor), a cystic fibrosis transmembrane regulator modulator with subsequent improvement of her symptoms. This case highlights the importance of maintaining a broad differential diagnosis for recurrent pulmonary infections, including diagnoses not typical for a patient's population or age group. Initiation of therapies such as Trikafta has been associated with improvement in lung function in a life-limiting disease.

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Adult Diagnosis of Cystic Fibrosis: A Cause of Recurrent Pneumonia

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