Diagnosis and treatment of cystic fibrosis in pulmonology

Abstract

Agnė Pacevičiūtė1, Skaidra Bieliūnaitė1, Dalia Balčienė2 1Lithuanian University of Health Sciences, Medical Academy, Faculty of Medicine 2Vilnius University Hospital Santaros Clinics, Centre of Pulmonology and Allergology Abstract Introduction. Cystic fibrosis is one of the most common of life-shortening genetic diseases, inherited in an autosomal recessive manner and caused by mutations that lead to the accumulation of sticky mucus in the respiratory system. Progressive respiratory failure remains the primary source of mortality, therefore it is important to understand the effects of this disease on the respiratory system. Aim: to review the cystic fibrosis diagnosis and treatment. Methodology: the literature used for this review was selected using the “Pubmed” database. The literature search was conducted using selected keywords, the most relevant and recent articles were selected. More than 30 publications on cystic fibrosis were analyzed. Results. Cystic fibrosis is a life-threatening disease that requires clinical symptoms, family history, laboratory and instrumental tests to confirm the diagnosis. Treatment for cystic fibrosis is evolving rapidly from symptomatic treatment to drugs that modulate the CFTR protein. Conclusions: Cystic fibrosis is one of the most common of life-shortening genetic diseases, inherited in an autosomal recessive manner and caused by a CFTR mutation. Disease manifests in reccurent wheezing, dyspnea, pneumonia, bronchiolitis and bronchiectasis. The sweat test is the primary laboratory test. Antibiotics, anti-inflammatories, mucolytics only treat the manifestations of the disease, but fundamental knowledge of molecular and cell biology has increased the prospects of targeted therapy. Keywords: cystic fibrosis, cystic fibrosis gene, newborn screening, sweat test, Ivacaftor.