Once considered a childhood disease, cystic fibrosis is now also a disease of adults. Increased longevity has resulted in the aging of the cystic fibrosis population. The consequent age-related medical problems among adults with cystic fibrosis have increased medical care needs. These needs are being met by a growing number of non-pediatric pulmonologists and other non-pediatric specialists. The objective of this review was to summarize the current knowledge about diagnosis and treatment in adult cystic fibrosis. In most cases, the diagnosis is suggested by manifestations of chronic sinopulmonary disease and exocrine pancreatic insufficiency. The diagnosis is confirmed by a positive sweat test result. Adult patients may, however, present pancreatic sufficiency and atypical clinical features, sometimes in combination with normal or borderline sweat test results. In such cases, identifying cystic fibrosis mutations and measuring nasal potential difference can have diagnostic utility. The standard therapeutic approach to pulmonary disease includes the use of antibiotics, airway clearance, exercise, mucolytics, bronchodilators, oxygen therapy, anti-inflammatory agents and nutritional support. Appropriate application of these therapies results in most cystic fibrosis patients surviving into adulthood with an acceptable quality of life.
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http://dx.doi.org/10.1590/s1806-37132008000200008 | DOI Listing |
Pharmaceutics
January 2025
School of Pharmacy, Queen's University Belfast, Belfast BT9 7BL, UK.
This paper presents a comprehensive review of the current literature, clinical trials, and products approved for the delivery of antibiotics to the lungs. While there are many literature reports describing potential delivery systems, few of these have translated into marketed products. Key challenges remaining are the high doses required and, for powder formulations, the ability of the inhaler and powder combination to deliver the dose to the correct portion of the respiratory tract for maximum effect.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Pediatrics, National Jewish Health, Denver, CO 80206, USA.
The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that is dysfunctional in individuals with cystic fibrosis (CF). The permeability of CFTR can be experimentally manipulated though different mechanisms, including activation via inducing the phosphorylation of residues in the regulatory domain as well as altering the gating/open probability of the channel. Phosphorylation/activation of the channel is achieved by exposure to compounds that increase intracellular cAMP, with forskolin and IBMX commonly used for this purpose.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Laboratory of Genome Editing, Research Centre for Medical Genetics, Moskvorechye, 1, 115522 Moscow, Russia.
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the gene. Currently, CFTR modulators are the most effective treatment for CF; however, they may not be suitable for all patients. A representative and convenient model is needed to screen therapeutic agents under development.
View Article and Find Full Text PDFBiomedicines
January 2025
Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisbon, 1749-016 Lisbon, Portugal.
The potentiator VX-770 (ivacaftor) has been approved as a monotherapy for over 95 cystic fibrosis (CF)-causing variants associated with gating/conductance defects of the CF transmembrane conductance regulator (CFTR) channel. However, despite its therapeutic success, VX-770 only partially restores CFTR activity for many of these variants, indicating they may benefit from the combination of potentiators exhibiting distinct mechanisms of action (i.e.
View Article and Find Full Text PDFBMJ Open
January 2025
Genetics and Molecular Pathology, SA Pathology, North Adelaide, South Australia, Australia
Objectives: To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.
Design: A retrospective study over a 5-year period (January 2018-December 2022).
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