[A retrospective study of delta F508 mutation in 22 patients operated on for meconium ileus].
Meconium ileus is the earliest clinical manifestation of cystic fibrosis. We report 22 neonates with meconium ileus who had clinical evidence of cystic fibrosis. Patients were categorized as simple with inspissated meconium in the ileum with dilated loops proximally or complicated with volvulus or atresia and/or a perforation resulting in meconium peritonitis. Histopathology of the surgically resected specimens of small bowel revealed lesions typical of cystic fibrosis. Genetic studies were performed on all subjects, this study analyzes the usefulness in the detection of delta F508 mutation in formalin-fixed paraffin-embedded tissues obtained from patients with meconium ileus, ten of whom had the delta F508/delta F508 mutation.
Queizan
A
A
Dpo. de Cirugía Pediátrica, Hospital La Paz, Facultad de Medicina, U.A.M.
Palacios
J
J
Limeres
M D
MD
Vallejo
D
D
Gamallo
C
C
Molano
J
J
D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000209:etiology / Q000601:surgery*; D008297:Male; D008470:Meconium; D009154:Mutation; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies
Estudio retrospectivo de la mutación delta F508 en 22 pacientes intervenidos por ileo meconial.