New diagnostic method for cystic fibrosis.
We report 3 cases where the diagnosis of cystic fibrosis (CF) was either confirmed or refuted by studies of chloride secretion in intestinal mucosal biopsies. In one case a heterozygous state was indicated and later confirmed by gene probe studies. The technique clearly distinguishes between CF and control patients and can provide a rapid diagnosis even in the neonatal period.
Taylor
C J
CJ
Department of Paediatrics, University of Sheffield.
Baxter
P S
PS
Dickson
J
J
Hardcastle
J
J
Hardcastle
P T
PT
Goldhill
J
J
D002675:Child, Preschool; D002712:Chlorides / Q000378:metabolism; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000378:metabolism
D002712:Chlorides