Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
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Case Reports
Ivacaftor restores CFTR-dependent sweat gland fluid secretion in cystic fibrosis subjects with S945L alleles.
To determine in vivo effects of CFTR modulators on mutation S945L. ⋯ These in vivo results, consistent with prior in vitro findings, indicate that the drug treatments restore near-normal function to S945L-CFTR, and support the use of ivacaftor as a treatment for CF patients who carry this allele.
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Randomized Controlled Trial
Antibiotic exposure and interpersonal variance mask the effect of ivacaftor on respiratory microbiota composition.
G551D is a class III mutation of the cystic fibrosis transmembrane regulator (CFTR) that results in impaired chloride channel function in cystic fibrosis (CF). Ivacaftor, a CFTR-potentiating agent improves sweat chloride, weight, lung function, and pulmonary exacerbation rate in CF patients with G551D mutations, but its effect on the airway microbiome remains poorly characterised. ⋯ The short-term impact of ivacaftor therapy on sputum microbiota composition in patients with G551D mutations are modest compared to those resulting from antibiotic exposure, and may be masked by changes in antibiotic treatment regimen.
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Cystic fibrosis (CF) affects multiple organs including the lung, liver, and pancreas. Lung transplant, liver transplant, and combined lung-liver transplant have become well-established therapies for CF patients with end-stage organ failure. Thus far, however, there has been limited experience with pancreas transplantation in CF. In this report, we detail the clinical history, transplant procedure, and post-operative recovery of a patient who underwent combined lung-liver-pancreas transplant for advanced CF.
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We aimed to characterize the cardiopulmonary response during a 1-min sit-to-stand (STS) test and compare peak exercise cardiorespiratory variables to a maximal cardiopulmonary exercise test (CPET) in cystic fibrosis (CF). We further aimed to assess the validity of the STS power index (PowerSTS) as a measure of exercise capacity. ⋯ The 1-min STS test elicits a substantial but lower cardiorespiratory response compared to a maximal cycle ergometry CPET. While PowerSTS and STS repetitions are both valid outcome measures of functional capacity, STS repetitions are clinically more practical.
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The role of the macrophages in cystic fibrosis (CF) lung disease has been poorly studied. We hypothesized that alternatively activated M2 macrophages are abnormal in CF lung disease. ⋯ CFTR-dependent imbalance of macrophage phenotypes and functions could contribute to the exaggerated inflammatory response seen in CF lung disease.