Cystic Fibrosis – A Case Report Illustrating the Importance of Access to Cystic Fibrosis Care and Therapy

Abstract

Abstract A 9-year-old Hispanic female, initially diagnosed with asthma, presented with recurrent respiratory infections, poor growth, a persistent cough, and chest congestion. Targeted gene sequencing testing confirmed cystic fibrosis (CF) with two F-508del mutations. Following referral to a specialized CF center, the patient received comprehensive clinical care, including patient and parent education, nutritional support, CF-specific therapies, and concurrent management of a pulmonary exacerbation. The introduction of CF modulator therapy resulted in substantial improvements in body mass index and forced expiratory volume in 1 s. This case highlights the importance of early diagnosis and access to CF care in improving clinical outcomes, especially in underserved populations.