Cystic Fibrosis: A Review Study

Cystic fibrosis (CF), which occurs due to abnormal transport of sodium, chloride, and bicarbonate across epithelial cells, is a multisystemic disorder. The CFTR gene has been found to include over 1,000 mutations that cause CF, with ΔF508 being one of the most severe and common variants. CFTR dysfunction causes mucus retention, persistent infection, and ultimately local airway inflammation, which is detrimental to the lungs. CF is characterised by chronic pulmonary infection and inflammation, pancreatic exocrine insufficiency, and gallstones, and might include several comorbidities such as CF-related diabetes or CF-associated hepatobiliary disease. Diagnosis of this autosomal recessive condition can be done as part of newborn screening, or recognition of the documented multiorgan clinical symptoms may also lead to diagnosis. People with CF now have a longer life expectancy thanks to management techniques like increasing mucociliary clearance, bronchodilators, recombinant DNase, and CFTR modulators. With the rise in survival rates and the number of individuals with CF, clinical trial institutes are actively investigating a wide range of alternative strategies, which will become increasingly necessary.

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Publication Details

Journal
European Medical Journal
Published
2025-12-11
DOI
https://doi.org/10.33590/emj/lfgs7282
Primary Topic
Cystic Fibrosis Research Advances
Type
article
Field-Weighted Citation Impact
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article

Cystic Fibrosis: A Review Study

European Medical Journal
Cystic Fibrosis Research Advances
article

Cystic Fibrosis: A Review Study

article en

Abstract

Cystic fibrosis (CF), which occurs due to abnormal transport of sodium, chloride, and bicarbonate across epithelial cells, is a multisystemic disorder. The CFTR gene has been found to include over 1,000 mutations that cause CF, with ΔF508 being one of the most severe and common variants. CFTR dysfunction causes mucus retention, persistent infection, and ultimately local airway inflammation, which is detrimental to the lungs. CF is characterised by chronic pulmonary infection and inflammation, pancreatic exocrine insufficiency, and gallstones, and might include several comorbidities such as CF-related diabetes or CF-associated hepatobiliary disease. Diagnosis of this autosomal recessive condition can be done as part of newborn screening, or recognition of the documented multiorgan clinical symptoms may also lead to diagnosis. People with CF now have a longer life expectancy thanks to management techniques like increasing mucociliary clearance, bronchodilators, recombinant DNase, and CFTR modulators. With the rise in survival rates and the number of individuals with CF, clinical trial institutes are actively investigating a wide range of alternative strategies, which will become increasingly necessary.

European Medical Journal
North Bengal Medical College and Hospital (IN)
Good health and well-being
Openalex Percentile: Top 30%
Cystic Fibrosis Research Advances
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Cystic Fibrosis: A Review Study · European Medical Journal (2025) | TGRS Research Map | TGRS