Cystic Fibrosis: Advances in Understanding and Treatment

Patrick A. Flume, MD

Christopher H. Goss, MD, MSc, FCCP

Donald VanDevanter, PhD

This issue of Seminars in Respiratory and Critical Care Medicine reviews our current knowledge of key areas related to cystic fibrosis (CF). Although Seminars has addressed CF previously, our knowledge of this condition has increased considerably and our treatment options are vastly improved. The discovery of the CF gene, coding for the cystic fibrosis transmembrane conductance regulator (CFTR), has led to tremendous progress in therapeutics directed at the complications that result from the genetic mutations. The prognosis of a child born with CF has steadily improved dramatically over the last few decades, and today we are on the precipice of broad access to highly effective therapies with relatively low associated treatment burden that address the basic underlying defect. As survival has increased we have moved CF from being a pediatric illness to one that is merely pediatric in diagnosis, such that adulthood should be the expectation for all affected families.

There remains a need to understand the etiology and progression of CF-associated complications. While CF diagnosis, whether by clinical symptoms or through newborn screening, has become routine as a result of improved diagnostic techniques and understanding of gene mutations, we are now more aware of CFTR-related complications which may not meet the diagnostic criteria of CF, but which can have real health consequences for affected individuals. In this Issue, we have included topics such as the basic pathophysiology associated with CFTR dysfunction, the complications of the condition including lung and pancreatic disease, what we have learned about the microbiologic aspects of sinus and lung disease, as well as endocrine and gastrointestinal or liver disease. Even with our newest therapies, patients who gain access to them after disease-associated complications have occurred will continue to suffer from irreversible pathologies, and so we have included a discussion of organ transplantation. We have invited international experts to write these up-to-date reviews based on their research or clinical expertise and extensive experience within this field.

In summary, this issue of Seminars will hopefully make clear the challenges of managing patients with cystic fibrosis, addressing the complicated diagnostic and treatment approaches required to manage and prevent progression of disease and serious complications. With the advance of our therapeutics, we anticipate a growing population of adult patients, for whom a workforce trained in the care of these patients will be needed. We would like to thank all the contributors for their enthusiasm and hard work. We also extend our thanks to Joseph P. Lynch, Editor-in-Chief of Seminars in Respiratory and Critical Care Medicine, as well as all those at the Editorial Office for their expertise in producing this issue of Seminars in Respiratory and Critical Care Medicine.