Introduction: Cystic fibrosis causes defects in the protein that regulates cystic fibrosis
transmembrane conductance (CFTR), resulting in disorders that lead to high
concentration of chlorine ions in sweat. The classification of mutations according to
the mechanism by which they compromise CFTR synthesis is related to phenotypic
expressions. Objective: To associate the genotype found with the clinical-nutritional
phenotype of children with cystic fibrosis seen at a referral center in Belém. Methods:
A cross-sectional study was conducted with children aged 2 to 10 years,
accompanied by the cystic fibrosis outpatient clinic of the João de Barros Hospital.
Barreto. Nutritional assessment was performed by body weight, height, triceps
skinfold (PCT) and arm circumference (CB). Information on mutations, lipids and
clinical data was collected from medical records. Results: 21 patients were analyzed,
with a mean age of 7.85 years. The most frequent mutation was class II, represented
by F508del (21/34 alleles), in 61.8% of patients. In the P / I and E / I analysis, all
were classified as adequate, 60% are compound heterozygotes and 40% are
homozygous, and of those with eutrophic BMI, 53.3% are compound heterozygotes
and 46.6% homozygotes. For the% CB and% CMB parameters, most malnourished
patients belong to the compound heterozygous group (%). While for the% PCT and
AMBc parameters, the distribution of malnutrition was homogeneous for both
genotypes. HDL-C is below normal in 57.89% of patients, with equal distribution of
compound and homozygous heterozygotes. The Shwachman-Kulczycki score shows
that 52.8% of patients have excellent scores (45.45% are compound heterozygotes
and 27.27% are homozygotes). Conclusion: The relationship between genotype and
clinical nutritional phenotype was not significant, however, more studies are needed
due to the limitations of this research.
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