[Mucoviscidosis with respiratory symptomatology in the neonatal period].
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.
Lamy
S
S
Unidade de Cuidados Intensivos Neonatasis, Serviço 1, Hospital de Dona Estefânia.
da Silva
L P
LP
Lopes
B
B
Pacheco
P
P
Lavinha
J
J
Amaral
J M
JM
Marques
J M
JM
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003937:Diagnosis, Differential; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
Mucoviscidose com sintomatologia respiratória no período neonatal.