Impactul genotipului homozigot delF508/delF508 asupra evoluției fibrozei chistice la copil cu debut precoce

Abstract

Summary. Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CFTR gene, leading to impaired chloride ion transport. This results in thickened mucus secretions, chronic respiratory infections, and pancreatic insufficiency. Diagnosis is based on clinical features consistent with the disease, positive sweat chloride test (≥60 mmol/L) and genetic testing, while treatment includes CFTR modulators, pancreatic enzyme replacement therapy, mucolytic drugs, respiratory physiotherapy and antibiotic therapy. The CFTR gene has over 2,000 identified mutations, with approximately 400 being pathogenic, classified into six categories based on their impact on CFTR protein function. The F508del mutation, the most common and severe, leads to pancreatic insufficiency and progressive pulmonary impairment. The presented clinical case describes an 8-year-old patient with homozygous F508del/F508del CF, exhibiting a severe disease course with chronic pulmonary infections and malnutrition. Pulmonary complications included pneumothorax, invasive pulmonary aspergillosis, and chronic respiratory failure. The disease progression was influenced by recurrent infections and poor treatment adherence. In conclusion, early diagnosis, continuous monitoring, and a multidisciplinary therapeutic approach are essential for preventing complications and improving long-term outcomes in CF patients.