Title:Cystic Fibrosis Revisited – a Review Study
Volume: 13
Issue: 2
Author(s): Blanka Klimova, Kamil Kuca, Michal Novotny and Petra Maresova
Affiliation:
Keywords:
Cystic fibrosis, pathophysiology, diagnosis, treatment, therapies, quality of life.
Abstract: Background: Cystic fibrosis (CF) is an incurable, chronic disease, which causes severe
damages to respiratory and digestive tracts. It is the most common genetically inherited disease
among caucasians. This disease is caused by defects in CF genes, the so-called mutations in cystic
fibrosis transmembrane conductance regulator (CFTR) gene population. At present over 100,000
people suffer from this disease worldwide.
Objective: The purpose of this review study is to describe the pathophysiology of CF and provide the
latest information on its diagnosis and treatment therapies with respect to the improvement of patient’s
quality of life and emphasis on targeted specialized care.
Method: The methodological approaches include a method of literature review of available sources
exploring the issue of cystic fibrosis both from a global and specific perspective point of view. A
search was performed in the databases PubMed, MEDLINE, Web of Science, Scopus, Springer and
ScienceDirect. Furthermore, other sources cited in the analyzed studies were also examined. On the
basis of evaluation of these literature sources, the research issue was explored.
Results: The main benefits (e.g., specialized centres for the treatment of CF exist or a new breakthrough
in the gene therapy of CF has been made) and limitations (e.g., comorbidity of CF, lifelong
and costly treatment, or adverse impact on patient’s and caregiver’s quality of life) in the treatment
of narcolepsy are highlighted.
Conclusion: CF requires an integrated treatment approach in specialized CF centers, involving various
factors contributing to a better patient’s state of health in the form of relevant and well-balanced
non-pharmacological and pharmacological therapies. In addition, further large scale clinical trials are
needed in order to develop compounds that are aimed at the most common classes of CFTR.
