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J Pediatr ; 122(4): 550-5, 1993 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-8463899

RESUMO

To determine whether pulmonary function in infants with asymptomatic cystic fibrosis is related to genotype, we studied 18 infants with cystic fibrosis identified through neonatal screening and 18 healthy control infants. Infants with cystic fibrosis (mean age, 2.0 months; range, 1.0 to 4.6 months) were identified from June 1990 to September 1991 through a statewide screening program based on elevated immunoreactive trypsinogen concentrations. Pulmonary function testing was done before and after inhalation of albuterol. There were no differences in pulmonary function between the cystic fibrosis group and the control infants (mean age, 2.7 months; range, 0.9 to 4.5 months). However, infants homozygous for the delta F508 deletion (n = 10) differed from infants with other genotypic variants of cystic fibrosis and control infants with respect to respiratory system resistance (79.4 +/- 11.5 vs 52.0 +/- 3.8 vs 55.5 +/- 5.0 cm H2O/L per second, respectively; p = 0.04) and specific conductance (0.15 +/- 0.02 vs 0.21 +/- 0.02 vs 0.21 +/- 0.02 cm H2O-1 sec-1, respectively; p = 0.02). Infants homozygous for the delta F508 deletion, but not other infants, responded to albuterol with a decrease in respiratory system resistance. We conclude that infants with asymptomatic cystic fibrosis homozygous for the delta F508 deletion have early evidence of airways obstruction and may need early respiratory treatment.


Assuntos
Fibrose Cística/genética , Pulmão/fisiopatologia , Triagem Neonatal , Fibrose Cística/epidemiologia , Fibrose Cística/fisiopatologia , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Testes de Função Respiratória , Fatores de Risco
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