CYSTIC FIBROSIS (MUCOVISCIDOSIS): PATHOGENESIS, CLINICAL MANIFESTATIONS, AND MODERN APPROACHES TO DIAGNOSIS AND MANAGEMENT
Keywords:
cystic fibrosis, mucoviscidosis, CFTR, genetic disease, pulmonary complications, pancreatic insufficiencyAbstract
Cystic fibrosis (CF), also known as mucoviscidosis, is one of the most common life-threatening autosomal recessive genetic disorders affecting multiple organ systems. The disease results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to abnormal chloride ion transport and production of thick secretions in the respiratory, gastrointestinal, and reproductive systems. This study aimed to analyze current knowledge regarding the pathogenesis, clinical manifestations, diagnosis, and management of cystic fibrosis. A comprehensive review of contemporary scientific literature was performed. The findings indicate that early diagnosis and multidisciplinary management significantly improve patient outcomes and quality of life. Recent advances in CFTR modulator therapies have transformed the treatment landscape and increased life expectancy among affected individuals. Continued research is essential for optimizing personalized treatment strategies and improving long-term prognosis.
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