Cystic Fibrosis

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.

Figure 1.

Cystic fibrosis transmembrane conductance regulator (CFTR) mutation classes. CFTR mutations have been grouped into 6 distinct classes based on abnormalities of CFTR synthesis, structure, and function. Reprinted with from: Boyle MP, DeBoeck K. A new era in the treatment of cystic fibrosis: correction of the underlying CFTR defect. Lancet Respir Med. 2013;1(2):158–163.

Figure 2.

Chest computed tomographic scan of an adolescent girl with cystic fibrosis demonstrates significant bronchiectasis (white open arrows) and mucous plugging (white asterisks). Reprinted from: Paranjape SM, Mogayzel PJ. Cystic fibrosis. Pediatr Rev. 2014;35(5).

Figure 3.

Common clinical manifestations of cystic fibrosis. Reprinted with permission from Link Studio LLC.

Figure 4.

Prevalence of bacterial pathogens in cystic fibrosis. MDR-PA=multidrug-resistant Pseudomonas aeruginosa, MRSA=methicillin-resistant Staphylococcus aureus. Reprinted from: Cystic Fibrosis Foundation Patient Registry © 2017 Cystic Fibrosis Foundation.