China
Africa
Explore chapters and articles related to this topic
Cystic Fibrosis
Published in Charles Theisler, Adjuvant Medical Care, 2023
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs and also to the pancreas, liver, and intestine. Unusually thick secretions of mucus, sweat, and digestive fluids plug up tubes, ducts, and passageways, especially in the pancreas and lungs. Individuals with CF are at greater risk of getting lung infections because thick, sticky mucus builds up in the lungs, trapping and allowing germs to thrive and multiply.
Cystic Fibrosis and Pancreatic Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Elissa M. Downs, Jillian K. Mai, Sarah Jane Schwarzenberg
Cystic fibrosis (CF) is a genetic disease that affects multiple organ systems, including the lungs and pancreas. Given the role of the pancreatic enzymes in digestion of nutrients, patients with CF and other diseases affecting the pancreas are at risk of malnutrition and deficiency of specific nutrients. Pancreatic enzyme replacement therapy (PERT) and fat-soluble vitamin supplementation are critical in promoting adequate growth and preventing vitamin deficiencies.
Oxidative Stress and Exercise Tolerance in Cystic Fibrosis
Published in James N. Cobley, Gareth W. Davison, Oxidative Eustress in Exercise Physiology, 2022
Cassandra C. Derella, Adeola A. Sanni, Ryan A. Harris
Cystic fibrosis (CF) is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which alters the regulation of chloride entering and leaving the cells (Radlovic, 2012). The CFTR gene mutation alters the production, expression, and activity of the CFTR chloride channel and although millions of people are carriers of the CFTR mutation (National Heart, 2018), only ~35,000 people in the United States (Centers for Disease Control and Prevention, 2020) and ~100,000 people worldwide currently have overt CF. Cystic fibrosis was once regarded as a lung disease due to the pulmonary manifestations and the fact that lung infections are the primary cause of morbidity and mortality. However, given that CFTR is also ubiquitously expressed throughout the body in organs such as the intestines, kidneys, pancreases, and liver, CF is now recognized as a multisystemic condition that requires a multidisciplinary approach to the presenting CF-related diabetes, pancreatic insufficiency, and GI malabsorption (Xue et al., 2016). In addition, CFTR is expressed on other cell types including endothelial cells, skeletal muscle, macrophages, lymphocytes, and mast cells (Xue et al., 2016).
Perceptions of barriers to and facilitators of physical activity in adults with cystic fibrosis
Published in Physiotherapy Theory and Practice, 2023
Raphaëlle Ladune, Valentine Filleul, Charlène Falzon, Meggy Hayotte, Laurent Mély, Jean-Marc Vallier, Mathieu Gruet, Anne Vuillemin, Fabienne d’Arripe-Longueville
Cystic fibrosis (CF) is the most common hereditary genetic disease, affecting mainly the respiratory system. Medical care consists in a combination of treatments and therapies including physical activity (PA), which encompasses sports, exercise and recreational activities (Savage et al., 2014). PA in CF has positive physical and psychological effects. For example PA can: increase exercise tolerance (Radtke, Nevitt, Hebestreit, and Kriemler, 2017); slow lung function decline (Kriemler et al., 2013); and improve the ease of expectoration, thereby improving the elimination of pulmonary secretions (Radtke, Nevitt, Hebestreit, and Kriemler, 2017; Schneiderman et al., 2014). PA thus impacts life expectancy because it increases aerobic capacity (Nixon, Orenstein, Kelsey, and Doershuk, 1992) and decreases drug use, as well as the number and duration of hospitalizations (Cox et al., 2016; Urquhart et al., 2012). PA also has beneficial psychological effects, such as improved quality of life (Radtke, Nevitt, Hebestreit, and Kriemler, 2017), with enhanced perceptions of wellness and a better self-image (Selvadurai et al., 2004). Furthermore, there are only a few contraindications to PA for pwCF (Hebestreit, Kriemler, and Radtke, 2015).
Adolescent and caregiver mental health, pulmonary function, and healthcare utilization in pediatric cystic fibrosis
Published in Children's Health Care, 2022
Areti Vassilopoulos, Melissa Swartz, Shruti Paranjape, Keith J. Slifer
Cystic fibrosis (CF) is the most common life-limiting, inherited pediatric chronic disease in the United States, exceeding 13,000 children under 18-years-old (Cystic Fibrosis Foundation, 2019). CF is an autosomal recessive disorder resulting from a genetic mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. According to the newest project within the Cystic Fibrosis Mutation Database, the Clinical and Functional Translation of CFTR (CFTR2), as of July 2020 in a database of 89,052 patients, 442 disease-causing variants were annotated, 360 of which were CF-causing (CFTR2, http://cfrt.org). Malfunction or deficiencies of the CFTR gene cause abnormal coagulation of thick mucus secretions that lead to multi-systemic disease and organ failure. Complications of CF, such as persistent pulmonary inflammation and bacterial infection, exocrine pancreatic insufficiency, and cystic fibrosis-related diabetes (CFRD) are associated with increased morbidity and mortality (Lobo & Noone, 2014). However, advancements in the treatment of CF have enhanced life expectancy from 10-years-old in 1962 to the current median predicted survival age of 47-years-old (Cystic Fibrosis Foundation, 2019). Revolutionizing CF treatment, innovative CFTR modulator therapies are the most recent medical advancements. In October 2019, the United States Federal Drug Administration (FDA) approved Trikafta ™, a triple molecular combination therapy for treatment of the most common CFTR mutation, F508del (Ridley & Condren, 2020).
CRISPR/Cas9 gene editing therapies for cystic fibrosis
Published in Expert Opinion on Biological Therapy, 2021
Cystic fibrosis is on its surface an excellent candidate for a genetic engineering-based treatment approach. Despite this, genetic medicines for CF have for decades faltered in clinical trials and been deemed unsuitable for human patients. However, in the past five years, the development of CRISPR-Cas9 as a highly efficient and programmable genome-editing tool has opened up a new opportunity to progress the field of CF treatment. CRISPR-Cas9 genome editing, and the technologies therefrom derived, represents an invaluable opportunity to correct the underlying cause of CF. In addition to the techniques discussed in this review, other alterations to various aspects of the CRISPR system have also been explored. A multitude of biochemical or structural modifications to gRNAs [64–67,105], use of a ‘double nickase’ approach [106], and various permutations of size and symmetry in repair template homology arms [75] have all been explored.