Diagnosis of cystic fibrosis, by assay of immuno-reactive trypsin in a newborn infant with jejuno-ileal atresias.
A newborn infant with ante-natally ultrasonically diagnosed small bowel obstruction was found to have two isolated jejunal atresias at laparotomy. Assay of immuno-reactive trypsin enabled an early diagnosis of cystic fibrosis to be made, later confirmed by an elevated sweat sodium.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D003550:Cystic Fibrosis / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007082:Ileum / Q000002:abnormalities*; D007231:Infant, Newborn; D007583:Jejunum / Q000002:abnormalities*; D014357:Trypsin / Q000032:analysis*
D014357:Trypsin