Cystic Fibrosis: Causes, Diagnosis, and Treatment
A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Pulmonology".
Deadline for manuscript submissions: closed (20 June 2022) | Viewed by 5412
Special Issue Editor
Special Issue Information
Dear Colleagues,
Cystic fibrosis (CF) is a common monogenic disorder associated with destructive lung disease and recurrent pulmonary infections. Until recently, the only potentially curative treatment was lung transplantation, however, the advent of new therapies such as cystic fibrosis transmembrane conductance regulator (CFTR) modulators have led to major changes in the way we treat CF, and will potentially change the outcome for at least 90% of people with CF. In this issue of the journal, we will cover three main aspects of CF. (1) The genetic causes of CF, and how the genotype may have a direct bearing on prognosis, even from birth. We will address diagnosis both in terms of newborn screening, but also the challenges of diagnosis in later life and the contribution of CFTR-related disorders to the landscape of CF treatment. (2) We will also explore the use of biomarkers in stratifying risk for patients, response to novel therapies and the diagnosis of pulmonary exacerbation in this section. (3) We will explore the treatment options for patients in the era of highly effective CFTR modulators and how standard CF therapies may be integrated with these new treatments. We will also look to the future of CF care, including strategies to repair damaged lungs in people with CF and gene-editing therapies, to address the lack of therapeutics for people with CF who have mutation combinations not amenable to CFTR modulation. Finally, we will address how the landscape may change in CF and how we manage the disease, including multi-disciplinary treatment over the course of one’s life, and how the pulmonary exacerbation may change from being a frequent feature of CF to a less frequent but clinically significant complication for people with CF.
Dr. Robert D. Gray
Guest Editor
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Keywords
- cystic fibrosis
- cystic fibrosis transmembrane conductance regulator
- lung disease
- pulmonary infections
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