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Stoffwechselerkrankungen

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Book cover Pädiatrische Hämatologie und Onkologie

Zusammenfassung

Im Alter von 3 Monaten setzte die Symptomatik bei dem bis dahin unauffälligen Mädchen ein. Einmal pro Woche kam es zum Erbrechen, das an Häufigkeit schnell zunahm. Mit 6 Monaten nahm das Kind nicht mehr zu. Eine stationäre Einweisung im Alter von 7 Monaten zur Abklärung der Symptomatik führte zur Entdeckung von niedrigen Leukozytenzahlen (3000/μl) sowie einer Thrombozytopenie (18.000/μl) bei einem Hb-Wert von 10 g/dl. Wegen der niedrigen Zellzahlen wurde das Kind mit der Verdachtsdiagnose einer Leukämie in die hämatologische/onkologische Abteilung einer Universitätskinderklinik verlegt. Bei fehlendem Blastennachweis in der Knochenmarkpunktion wurden aufgrund der Panzytopenie auch Stoffwechseluntersuchungen eingeleitet. Bei der Untersuchung der organischen Säuren im Urin fand sich eine massive Ausscheidung von 3-Hydroxypropionat, Methylmalonsäure und Methylcitrat, so dass die Verdachtsdiagnose einer Organoazidurie mit sekundärer Knochemarkdepression aufgrund der akkumulierenden toxischen Metabolite gestellt wurde. Enzymatische Untersuchungen in Fibroblasten bestätigten das Vorliegen einer Vitamin-B12-sensiblen Form der Methylmalonazidurie. Unter einer wöchentlichen intramuskulären Injektion von 5 mg Hydroxycobalamin und einer diätetischen Eiweißrestriktion normalisierte sich das periphere Blutbild innerhalb weniger Wochen. Das mittlerweile 6 Jahre alte Kind ist beschwerdefrei und entwickelt sich altersgerecht.

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Authors and Affiliations

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

    Priv.-Doz. Dr. Thorsten Marquardt & Prof. Dr. Erik Harms

  2. Klinik und Poliklinik für Kinder- und Jugendmedizin Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster

    Prof. Dr. Jörg Ritter

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  1. Priv.-Doz. Dr. Thorsten Marquardt
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  2. Prof. Dr. Erik Harms
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Editor information

Editors and Affiliations

  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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Marquardt, T., Harms, E., Ritter, J. (2006). Stoffwechselerkrankungen. 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_31

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