Mucoviscidosis with respiratory symptomatology in the neonatal period.

Authors

  • S Lamy Unidade de Cuidados Intensivos Neonatasis, Serviço 1, Hospital de Dona Estefânia.
  • L P da Silva
  • B Lopes
  • P Pacheco
  • J Lavinha
  • J M Amaral
  • J M Marques

DOI:

https://doi.org/10.20344/amp.2392

Abstract

A case of cystic fibrosis presented in the neonatal period with respiratory symptomatology associated with early pancreatic insufficiency is reported. The CFTR gene molecular analysis was found to be a compound heterozygotes for delta F508 and G542X. The rarity of this mode of presentation and the inclusion of this entity in the differential diagnosis for neonatal respiratory distress syndrome is emphasised. The pathogenesis and some therapeutic aspects carried out in our patient, which might have improved the life expectancy of patients with this disease, are discussed.

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How to Cite

1.
Lamy S, da Silva LP, Lopes B, Pacheco P, Lavinha J, Amaral JM, Marques JM. Mucoviscidosis with respiratory symptomatology in the neonatal period. Acta Med Port [Internet]. 1997 Mar. 30 [cited 2024 Mar. 28];10(2-3):209-12. Available from: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/2392

Issue

Section

Arquivo Histórico