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Angeborene Erythrozytenmembrandefekte

  • Chapter
Pädiatrische Hämatologie und Onkologie

Zusammenfassung

Der 12-jährige Junge erkrankte plötzlich, 1 Woche nach einer kurzen fieberhaften Episode, mit Blässe, Kopfschmerzen und Appetitlosigkeit. Während der stationären Beobachtung fiel die Hämoglobinkonzentration auf minimal 6,2 g/dl ab, das MCV war normal. Es bestand eine Retikulozytopenie von 2‰, das Bilirubin war nicht erhöht, der Serumeisenspiegel mit 200 μg/dl deutlich erhöht. Die Mutter erkrankte zeitgleich unter denselben Symptomen; sie wies zusätzlich einen leichten Sklerenikterus und eine mäß iggradige Herzinsuffizienz auf. Die minimale Hämoglobinkonzentration betrug 5,4 g/dl, die Retikulozytenzahl war erniedrigt, das Bilirubin leicht erhöht. Aufgrund der Zeichen der kardialen Dekompensation erfolgte eine sofortige Transfusionsbehandlung der Mutter.

Im Blutbild von Mutter und Sohn fanden sich vereinzelt Kugelzellen, die osmotische Fragilität der Erythrozyten war erhöht, so dass bei Mutter und Sohn die Diagnose einer hereditären Sphärozytose (mit bisher mildem Verlauf) gestellt wurde. Zusammen mit der Retikulozytopenie lag eine aplastische Krise bei hereditärer Sphärozytose vor. Als Ursache der aplastischen Krise wurde Parvovirus B19 nachgewiesen.

Eine aplastische Krise infolge Parvirus-B19-Infektion ist nicht selten die Erstmanifestation einer hereditären Sphärozytose. Infolge der Unterdrückung der Erythropoese fehlt die bei hämolytischen Krisen typische Verstärkung des Ikterus. Da es bei aplastischen Krisen unbehandelt zu einem lebensbedrohlichen Abfall der Hä moglobinkonzentration kommt, müssen Patienten mit hämolytischer Anämie und ihre Eltern auf die plötzliche Blässe als Warnsymptom einer schweren Krise hingewiesen werden.

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  1. Kinderklinik Schwabing, Kinderklinik und Poliklinik der TU München, Kölner Platz 1, 80804, München

    Prof. Dr. Stefan Eber

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  1. Forschungsinstitut für krebskranke Kinder, St. Anna Kinderspital, Kinderspitalgasse 6, 1090, Wien, Österreich

    Helmut Gadner

  2. Klinik für Allgemeine Pädiatrie und Knochenmarktransplantation, Charité Campus Virchow-Klinikum Otto-Heubner-Centrum für Kinder- und Jugendmedizin, Augustenburger Platz 1, 13353, Berlin

    Gerhard Gaedicke

  3. Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg

    Charlotte Niemeyer

  4. Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster

    Jörg Ritter

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Eber, S. (2006). Angeborene Erythrozytenmembrandefekte. In: Gadner, H., Gaedicke, G., Niemeyer, C., Ritter, J. (eds) Pädiatrische Hämatologie und Onkologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-29036-2_9

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