[Difficulties in diagnosis of cystic fibrosis].
In this study we have presented the diagnostic difficulties in a child with cystic fibrosis recognised basing on the clinical picture of the disease, together with two elevated values of sweat chloride tests. The diagnosis was confirmed by an identification of delta F 508 mutation on both cystic fibrosis chromosomes. Normal sweat test results in a first stage of diagnosis performed twice in a newborn period were a factor which delated the diagnosis.
Zielezińska
L
L
Katedry i Kliniki Pediatrii, Aleroglogii i Gastroenterologii Akademii Medycznej im. L. Rydygiera w Bydgoszczy.
Szaflarska-Szczepanik
A
A
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation