Resumo

MARTINEZ GARCIA, M.S.  e  CASADO SANCHEZ, M.L.. Cystic fibrosis, a diagnosis at Primary Care. Rev Pediatr Aten Primaria [online]. 2011, vol.13, n.49, pp.83-88. ISSN 1139-7632.

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding the CF transmembrane conductance regulator. It is characterized by numerous clinical variations: airway obstruction and infection, maldigestion, delay of the development... The lung injury determines morbidity and mortality. CF has a great deal of genetic mutations, which produce different phenotypes. However, the diagnosis is not easy and criteria are constantly revised after the latest scientific research. Since we can suspect the illness before than some years ago and due to the neonatal screening and the early treatments, prognosis and survival have improved in comparison with the last century. It is worth insisting on the fact that diagnosis at Primary Care is possible: knowing the illness, suspecting it and carrying out the neonatal screening. We present two cases at a Primary Care Unit, one of them manifesting respiratory symptoms and the other one digestive ones.

Palavras-chave : Cystic fibrosis; Primary Health care; Diagnosis.

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