Affiliation:
1. Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD
Abstract
Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility. Although CF is a life-shortening disease, survival has continued to improve to a median age of 46.2 years due to earlier diagnosis through routine newborn screening, promulgation of evidence-based guidelines to optimize nutritional and pulmonary health, and the development of CF-specific interdisciplinary care centers. Future improvements in health and quality of life for individuals with CF are likely with the recent development of mutation-specific modulator therapies. In this review, we will cover the current understanding of the disease manifestations, diagnosis, and management as well as common complications seen in individuals with CF.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Reference73 articles.
1. Cystic fibrosis of the pancreas and its relation to celiac disease;Andersen;Am J Dis Child,1938
2. Comparison of the clinical manifestations of cystic fibrosis in black and white patients;Hamosh;J Pediatr,1998
3. Cystic fibrosis carrier testing in an ethnically diverse US population;Rohlfs;Clin Chem,2011
4. Cystic Fibrosis Foundation. Carrier testing for cystic fibrosis. Available at: https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/. Accessed August 1, 2019
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