Cystic Fibrosis - An Ever Evolving Challenge

Abstract

Abstract Cystic fibrosis (CF) is a genetic disease that results from mutations in a large single gene located on chromosome 7. More than 2000 different mutations in the gene have been identified to have caused the disease. Most of these mutations are exceedingly rare and therefore not a part of CF screening or all testing panels. This case discusses an adult female with a history of asthma, bronchiectasis, pseudomonas colonization, and respiratory failure on chronic oxygen who presented to the ED with sudden onset shortness of breath, fever, chills, body aches, nonproductive cough, and headache. The patient's condition clinically improved with treatment and was discharged on day three. The patient had previously undergone a laboratory evaluation of bronchiectasis. Due to the patient's history of bronchiectasis and pseudomonas colonization, there was a decision to reconsider the possibility of CF. The patient underwent a routine cystic fibrosis genetic testing panel which subsequently confirmed a CFTR mutation. The discussion highlights the importance of remaining vigilant for signs of CF, to remain open to the possibility of CF or CFTR related disorders, when patients have had evaluations for such that predate current testing standards or capabilities.