Cystic Fibrosis Lung Disease: An Overview

Abstract

Although better insights into the natural course of cystic fibrosis (CF) have led to treatment approaches that have improved pulmonary health and increased the life expectancy of individuals with this disorder, lung disease remains the main cause of morbidity and mortality in patients with CF. Evidence suggests that airway epithelial defects in ions-water transport lead to dehydrated mucus, impaired mucus clearance, and mucus adhesion to airway surfaces. An increase in mucin secretion is also suggested by the formation of endobronchial mucus plaques and plugs, which become the main sites of air flow obstruction, infection, and inflammation conducing to early small airways disease followed by the development of bronchiectasis. The lung involvement is usually progressive with intermittent exacerbations. Aggressive management and advances in treatment delay, but, do not prevent progression of lung disease. Respiratory failure ensues and is the major cause of death. The lung parenchyma is virtually untouched for much of the course of the disease. This review focuses on the lung involvement in cystic fibrosis and summarizes new developments on the diagnostic approach of CF and pathogenesis of related lung disease. Current therapeutic modalities, novel therapies targeting the basic genetic defect, and lung transplantation are also reviewed.

The Significance of Density Measurement and the Modified Bhalla and Reiff Scores in Predicting Exacerbations and Hospital Admissions in Cystic Fibrosis Patients

“…This approach may elucidate the similarity of our results to those of the prospective study. Both investigations revealed that certain persistent pathologies were common in adult CF CTs, affecting the lungs entirely rather than the upper lobes, as previously believed [ 21 ].…”

The Significance of Density Measurement and the Modified Bhalla and Reiff Scores in Predicting Exacerbations and Hospital Admissions in Cystic Fibrosis Patients

“…This approach may elucidate the similarity of our results to those of the prospective study. Both investigations revealed that certain persistent pathologies were common in adult CF CTs, affecting the lungs entirely rather than the upper lobes, as previously believed [ 21 ].…”

Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis

“…28 The association of death with colonization, respiratory symptomatology, nutritional status, and hospitalization can be explained by their direct or indirect relationship with respiratory complications, which are the main cause of mortality in CF. 22 Although most participants did not undergo supervised physiotherapy and unsupervised physiotherapeutic interventions (airway clearance therapy and physical activity) -essential for a better disease prognosis 29 -, these aspects showed no significant association with disease severity and death, a result that may be related to other variables not analyzed in the present study, such as frequency, type of exercises and physical activity practiced. The reference center where the study was conducted provides guidance for the practice of respiratory exercises and the importance of physical activity but does not have a specific physiotherapy program for patient rehabilitation.…”

Leveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease

“…We then used ICEES to focus on a subset of patients with a diagnostic code for CF and applied the ICEES multiple comparisons functionality to determine factors that significantly differed among patients with CF and poor health outcomes vs. those with better outcomes. We were able to replicate current understanding of the pathogenesis and clinical manifestations of CF (e.g., Turcios, 2020 ) by identifying several co-diagnoses that differentiated patients with CF and poor health outcomes from those with better outcomes: asthma; chronic nasal congestion; cough; middle ear disease; and pneumonia. Demographic factors and environmental exposures were not associated with health outcomes among patients with CF.…”

The Significance of Density Measurement and the Modified Bhalla and Reiff Scores in Predicting Exacerbations and Hospital Admissions in Cystic Fibrosis Patients

“…This approach may elucidate the similarity of our results to those of the prospective study. Both investigations revealed that certain persistent pathologies were common in adult CF CTs, affecting the lungs entirely rather than the upper lobes, as previously believed [ 21 ].…”

Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis

“…28 The association of death with colonization, respiratory symptomatology, nutritional status, and hospitalization can be explained by their direct or indirect relationship with respiratory complications, which are the main cause of mortality in CF. 22 Although most participants did not undergo supervised physiotherapy and unsupervised physiotherapeutic interventions (airway clearance therapy and physical activity) -essential for a better disease prognosis 29 -, these aspects showed no significant association with disease severity and death, a result that may be related to other variables not analyzed in the present study, such as frequency, type of exercises and physical activity practiced. The reference center where the study was conducted provides guidance for the practice of respiratory exercises and the importance of physical activity but does not have a specific physiotherapy program for patient rehabilitation.…”

Leveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease

“…We then used ICEES to focus on a subset of patients with a diagnostic code for CF and applied the ICEES multiple comparisons functionality to determine factors that significantly differed among patients with CF and poor health outcomes vs. those with better outcomes. We were able to replicate current understanding of the pathogenesis and clinical manifestations of CF (e.g., Turcios, 2020 ) by identifying several co-diagnoses that differentiated patients with CF and poor health outcomes from those with better outcomes: asthma; chronic nasal congestion; cough; middle ear disease; and pneumonia. Demographic factors and environmental exposures were not associated with health outcomes among patients with CF.…”

The Significance of Density Measurement and the Modified Bhalla and Reiff Scores in Predicting Exacerbations and Hospital Admissions in Cystic Fibrosis Patients

“…This approach may elucidate the similarity of our results to those of the prospective study. Both investigations revealed that certain persistent pathologies were common in adult CF CTs, affecting the lungs entirely rather than the upper lobes, as previously believed [ 21 ].…”

Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis

“…28 The association of death with colonization, respiratory symptomatology, nutritional status, and hospitalization can be explained by their direct or indirect relationship with respiratory complications, which are the main cause of mortality in CF. 22 Although most participants did not undergo supervised physiotherapy and unsupervised physiotherapeutic interventions (airway clearance therapy and physical activity) -essential for a better disease prognosis 29 -, these aspects showed no significant association with disease severity and death, a result that may be related to other variables not analyzed in the present study, such as frequency, type of exercises and physical activity practiced. The reference center where the study was conducted provides guidance for the practice of respiratory exercises and the importance of physical activity but does not have a specific physiotherapy program for patient rehabilitation.…”

Leveraging Open Electronic Health Record Data and Environmental Exposures Data to Derive Insights Into Rare Pulmonary Disease

“…We then used ICEES to focus on a subset of patients with a diagnostic code for CF and applied the ICEES multiple comparisons functionality to determine factors that significantly differed among patients with CF and poor health outcomes vs. those with better outcomes. We were able to replicate current understanding of the pathogenesis and clinical manifestations of CF (e.g., Turcios, 2020 ) by identifying several co-diagnoses that differentiated patients with CF and poor health outcomes from those with better outcomes: asthma; chronic nasal congestion; cough; middle ear disease; and pneumonia. Demographic factors and environmental exposures were not associated with health outcomes among patients with CF.…”