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Selected Publication:
Eber, E; Ellemunter, H; Engele, H; Götz, M; Grünberger, W; Haas, J; Janisch, H; Leodolter, S; Litscher, H; Müller, G.
Mucoviscidosis screening with immunoreactive trypsin
WIEN KLIN WOCHENSCHR. 1992; 104: 681-685.
Web of Science
PubMed
- Leading authors Med Uni Graz
- Eber Ernst
- Co-authors Med Uni Graz
- Haas Josef
- Pürstner Peter
- Zach Maximilian
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Austria -
- Cystic Fibrosis - diagnosis
- Humans - diagnosis
- Infant, Newborn - diagnosis
- Neonatal Screening - diagnosis
- Predictive Value of Tests - diagnosis
- Radioimmunoassay - diagnosis
- Reference Values - diagnosis
- Trypsin - blood
- Find related publications in this database (Keywords)
- Immunoreactive Trypsin
- Cystic Fibrosis
- Newborn Screening