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Cystic Fibrosis - An Ever Evolving Challenge, Abdullah A. Orakzai, Osama Sherjeel Khan, Syeda Sarah Raza, Muhammad H. Sharif, Mehr A. Orakzai

Advances in Clinical Medical Research and Healthcare Delivery

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 …