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IRT-Bestimmung in Vollblutproben getrocknet auf Filterpapier als Suchtest auf Cystische Fibrose

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Screening auf angeborene endokrine und metabole Störungen

Zusammenfassung

Die Bestimmung des immunreaktiven Trypsin-Werts mit dem Trypsin-MW ELISA der ICN BIOMEDICALS als Suchtest auf Cystische Fibrose (CF) wir im Screening-labor Homburg/Saar seit 1990 im Rahmen des Routineneugeborenenscreening durchgeführt. Die Auswertung der Daten nach 6 Jahren wird in der vorliegenden Arbeit dargelegt.

Proben von 65.190 Kindern wurden bestimmt. Der Grenzwert lag bei 204 ng/ml IRT in Vollblut. Eine Zweitprobe wurde bei 0,73% der Proben erforderlich. In 18 Fällen wurde anhand des Screeningtests eine Mukoviszidose erkannt. Die Diagnose wurde durch Schweißtest gesichert. Dies ergab eine Inzidenz von 1: 3155. Zwei falsch negative Fälle sind uns bekannt geworden. Die Sensitivität betrug 90%, die Spezifität 95% und der positive prädiktive Wert 45%.

Eine mögliche andere Ursache als Cystische Fibrose für Hypertrypsinämie war Frühgeburtlichkeit. Bei Mukoviszidose blieb im Gegensatz zu anderen Krankheitsbildern der IRT-Wert über lange Zeit erhöht.Wir konnten zeigen, daß durch das CF-Screening die Diagnose um Jahre früher gestellt, bald mit der Therapie begonnen und damit ein besserer klinischer Zustand erreicht werden konnte.

Mit der Entwicklung kausaler Therapiekonzepte der Mukoviszidose wird das Neugeborenenscreening auf CF noch mehr an Bedeutung gewinnen.

Cystic fibrosis screening by dried blood spot trypsin assay

Newbornscreening for cystic fibrosis (CF) by evaluation of immunoreactive trypsin (IRT) with Trypsin-MW ELISA by ICN BIOMEDICALS has been undertaken in Homburg/Saar since 1990.This six years lasting study was designed to investigate the test and possible benefits of early diagnosis and therapy.

65.190 samples were tested.The cut off was chosen by 204 ng/ml IRT in blood. 0,73% with higher IRT level were recalled for a second test.

18 cases of cystic fibrosis have been identified by screening. Giving an incidence of 1: 3155.Two cases are known to be missed by screening.The sensitivity was 90%, the specifity 95% and PPV 45%.

Another source for elevation of IRT besides CF was premature birth. In Cystic Fibrosis the elevated IRT level stayed high over a long period of time in comparison to other neonatal pathological findings.

We could demonstrate that with screening affected children were diagnosed years earlier, therapy was initiated sooner and better clinical outcome was achieved.

With the development of new and causalistic regimes newborn screening will get even more important.

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Authors
  1. S. Zabransky
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  2. S. Isabel Zink
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Zabransky, S., Zink, S.I. (2001). IRT-Bestimmung in Vollblutproben getrocknet auf Filterpapier als Suchtest auf Cystische Fibrose. In: Screening auf angeborene endokrine und metabole Störungen. Springer, Vienna. https://doi.org/10.1007/978-3-7091-6252-1_33

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  • DOI: https://doi.org/10.1007/978-3-7091-6252-1_33

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-7091-7260-5

  • Online ISBN: 978-3-7091-6252-1

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