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Erblich bedingte Thrombozytopenien

Inherited thrombocytopenias

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Zusammenfassung

Erblich bedingte Thrombozytopenien sind eine heterogene Gruppe seltener Erkrankungen mit niedrigen Thrombozytenzahlen. Das klinische Spektrum reicht von schweren syndromalen Formen mit Multiorganbeteiligung und schweren Blutungen bis hin zu leichten, nur zufällig diagnostizierten Thrombozytopenien. Zwar konnten bei den meisten Erkrankungen Defekte in Genen beschrieben werden, die für Membranglykoproteine, für Proteine des Zytoskeletts und intrazellulärer Signalwege oder für Transkriptionsfaktoren kodieren. Trotzdem sind die zugrunde liegenden Pathomechanismen häufig noch unbekannt. Diese Zusammenfassung beschreibt pathophysiologische, klinische und diagnostische Aspekte erblich bedingter Thrombozytopenien.

Abstract

Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by reduced numbers of blood platelets. The clinical spectrum ranges from severe syndromal forms with multiorgan involvement and severe bleeding to mild conditions that may remain undetected. In most cases, defects have been described in genes coding for membrane glycoproteins, cytoskeletal components, intracellular signaling pathways, and transcription factors. However, the pathophysiologic mechanisms remain elusive in a number of diseases. This review describes pathophysiologic, clinical, and diagnostic aspects of inherited thrombocytopenias.

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Authors and Affiliations

  1. IRCCS Policlinico San Matteo, Università di Pavia, Pavia, Italien

    C. Balduini

  2. Abteilung für Pädiatrische Hämatologie und Onkologie, Zentrum Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625, Hannover

    M. Ballmaier, K. Welte & M. Germeshausen

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  1. M. Ballmaier
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  2. C. Balduini
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  3. K. Welte
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  4. M. Germeshausen
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Correspondence to M. Ballmaier.

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Ballmaier, M., Balduini, C., Welte, K. et al. Erblich bedingte Thrombozytopenien. Monatsschr Kinderheilkd 154, 510–521 (2006). https://doi.org/10.1007/s00112-006-1346-z

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