title: [Mucoviscidosis screening with immunoreactive trypsin].
abstract: Up to now 49,116 immunoreactive trypsin (IRT) measurements have been carried out in Austrian newborns in the first week of life. Related to provisionally chosen cut-off points, 301 newborns (0.61%) showed an elevated IRT value; 253 of them were successfully recalled. According to a direct strategy, sweat tests were done without a second IRT measurement in 101 infants; eleven of them were identified as cystic fibrosis (CF) patients. In accordance with a 2-step strategy, 152 infants were reinvestigated by a second IRT determination. Twenty-eight of them again showed an elevated IRT value, as based on provisional, age-dependent reference values; seven were subsequently identified as CF patients by sweat testing. So far two false-negative findings were obtained on IRT screening: one child was later identified as having CF on the basis of typical clinical symptoms and a positive sweat test, the other patient presenting with meconium ileus showed a normal IRT value after surgery, but was subjected to a sweat test in view of the underlying condition. These preliminary results suggest a CF incidence of 1 to 2460 newborns in Austria. Hence, IRT screening appears to be a reliable method for identifying CF patients in the newborn period, thereby facilitating early treatment and genetic counselling.
authors: Universitäts-Kinderklinik, Graz.
authors: E
authors: E
authors: Eber
authors: H
authors: H
authors: Ellemunter
authors: H
authors: H
authors: Engele
authors: M
authors: M
authors: Götz
authors: W
authors: W
authors: Grünberger
authors: J
authors: J
authors: Haas
authors: H
authors: H
authors: Janisch
authors: S
authors: S
authors: Leodolter
authors: H
authors: H
authors: Litscher
authors: G
authors: G
authors: Müller
mesh_terms: D001317:Austria; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000517:prevention & control*; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D011237:Predictive Value of Tests; D011863:Radioimmunoassay; D012016:Reference Values; D014357:Trypsin / Q000097:blood*
chemical_list: D014357:Trypsin
vernacular_title: Mukoviszidose-Screening mit immunreaktivem Trypsin.