Background: Cystic fibrosis is a multisystemic genetic disease with autosomal recessive transmission, with progressive clinical evolution and potentially fatal, predominantly found in the Caucasian population. It is characterized by chronic lung disease and malabsorption caused by exocrine pancreatic insufficiency.
Objective: Screening of patients with persistent respiratory disease and malabsorption syndrome to diagnose cystic fibrosis and monitoring the correlation between respiratory manifestations and nutritional status.
Methods: A retrospective study on 8 patients diagnosed with cystic fibrosis, from Department of Pediatrics - Constanta County Emergency Hospital, during the period from 2015 to 2018.
Results: 8 patients were diagnosed by genetic test for 34 mutations and polymorphism of CFTR gene; 2 homozygous patients with ∆F508 mutation (second class of mutations) with severe disease, 2 heterozygous patients with ∆F508 mutation del 2,3; 2 heterozygous patients with ∆F508 and R553X mutations, 1 heterozygous patient with N1303K and 394delTT mutations, 1 heterozygous patient with 2183 AA96 and ∆F508 mutation; 7 out of 8 patients were diagnosed in the first year of life by performing the sweat test, with values higher than 120 mmol/L.
Clinical manifestations at onset were represented by diarrhea and failure to thrive in 4 cases and in 4 cases respiratory manifestations were associated. More than half of cases had less than 6 months of age at first respiratory exacerbation, which was associated with failure to thrive. Analyzing the correlation between genotype and anthropometric indicators, it was observed that the weight was more affected than the height. The analysis between nutritional status and lung function revealed that obstructive respiratory dysfunction with low FEV1 was correlated with nutritional status.
Conclusion: Cystic fibrosis is a severe genetic disease and it is important to diagnose early, because it has been observed that if the diagnosis is established late, the consequences will be severe and lung function will deteriorate earlier.
- cystic fibrosis
- nutritional status
- respiratory manifestations
- pulmonary function
- gene mutations