Cystic Fibrosis–Related Diabetes Workshop: Research Priorities Spanning Disease Pathophysiology, Diagnosis, and Outcomes
Year: 2023
Type: review
Abstract: Cystic fibrosis (CF) is a recessive disorder arising from mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR is expressed in numerous tissues, with high expression in the airways, small and large intestine, pancreatic and hepatobiliary ducts, and male reproductive tract. CFTR loss in these tissues disrupts regulation of salt, bicarbonate, and water balance across their epithelia, resulting in a systemic disorder with progressive organ dysfunction and damage. Pancreatic exocrine damage ultimately manifests as pancreatic exocrine insufficiency that begins as early as infancy. Pancreatic remodeling accompanies this early damage, during which abnormal glucose tolerance can be observed in toddlers. With increasing age, however, insulin secretion defects progress such that CF-related diabetes (CFRD) occurs in 20% of teens and up to half of adults with CF. The relevance of CFRD is highlighted by its association with increased morbidity, mortality, and patient burden. While clinical research on CFRD has greatly assisted in the care of individuals with CFRD, key knowledge gaps on CFRD pathogenesis remain. Furthermore, the wide use of CFTR modulators to restore CFTR activity is changing the CFRD clinical landscape and the field's understanding of CFRD pathogenesis. For these reasons, the National Institute of Diabetes and Digestive and Kidney Diseases and the Cystic Fibrosis Foundation sponsored a CFRD Scientific Workshop, 23-25 June 2021, to define knowledge gaps and needed research areas. This article describes the findings from this workshop and plots a path for CFRD research that is needed over the next decade.
Source: Diabetes Care
DOI: 10.2337/dc23-0380
Authors: Melissa S. Putman, Andrew W. Norris, Rebecca L. Hull, Michael R. Rickels, Lori Sussel, Scott M. Blackman, Christine L. Chan, Katie Larson Ode, Tanicia Daley, Arlene A. Stecenko, Antoinette Moran, Meagan J. Helmick, Sharon Cray, Jessica A. Alvarez, Virginia A. Stallings, Katherine L. Tuggle, John P. Clancy, Thomas L. Eggerman, John F. Engelhardt, Andrea Kelly
Institutions: Boston Children's Hospital, Massachusetts General Hospital, University of Iowa, University of Washington, VA Puget Sound Health Care System, University of Pennsylvania, University of Colorado Anschutz, Johns Hopkins University, Johns Hopkins Medicine, Emory University, Children's Healthcare of Atlanta, University of Minnesota, Cystic Fibrosis Foundation, Children's Hospital of Philadelphia, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: The Impact of Insulin Therapy on Protein Turnover in Pre-Diabetic CF Patients, Early Pathogenesis of Cystic Fibrosis Related Diabetes, G2769424140, Clinical studies of a bionic pancreas for automated glucose management in cystic fibrosis-related diabetes mellitus, G3716575347, G414168849, Evaluation of the entero-insular (incretin) axis in cystic fibrosis-competitive renewal., G4837323045, Splanchno-Hormonal Mechanisms of Cystic Fibrosis Related Diabetes, Center for Cystic Fibrosis Translational Research in the Post-CFTR modulator Era, Georgia Cystic Fibrosis Research and Translation Core Center, A Dietary Intervention to Improve Glucose Tolerance in Adults with Cystic Fibrosis, Precision Medicine Center for Cystic Fibrosis
OpenAlex ID: W4367600780