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.
