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Hamostaseologie 2016; 36(03): 178-186
DOI: 10.5482/HAMO-14-11-0067
Review
Schattauer GmbH

Angeborene Thrombozytenfunktionsstörungen

Inherited platelet disorders
Kirstin Sandrock-Lang
1   Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
,
Rüdiger Wentzell
2   Department of Pediatrics, Lukaskrankenhaus, Neuss, Germany
,
Sentot Santoso
3   Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University of Giessen, Germany
,
Barbara Zieger
1   Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
› Author Affiliations
Further Information

Publication History

received: 15 November 2014

accepted in revised form: 30 January 2015

Publication Date:
20 December 2017 (online)

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Zusammenfassung

Angeborene Thrombozytopathien können zu Blutungssymptomen unterschiedlichen Schweregrades führen, da die Thrombozyten nicht mehr ihre Funktion nach einer Gefäß-verletzung erfüllen können. In manchen Fällen sind Thrombozytopathien schwierig zu diagnostizieren und können Probleme in der Therapie und im Management verursachen. Dieser Review beschreibt den klinischen und molekulargenetischen Phänotyp der verschiedenen angeborenen Thrombozytopathien. Die angeborenen Thrombozytopathien werden entsprechend des Thrombozytendefekts eingeteilt: Rezeptordefekte (Adhäsion oder Aggregation), Sekretionsdefekte und Zytoskelettdefekte.

Die am besten charakterisierten thrombozytären Rezeptordefekte sind die Glanzmann Thrombasthenie (Defekt des Integrins [uni03B1]IIb[uni03B2]3) und das Bernard-Soulier Syndrom (Defekt des GPIb/IX/V Rezeptors). Umfassende Fall-berichte über die Blutungsdiathese sowie die Untersuchung der Thrombozytenaggregation bzw. -agglutination und Rezeptorexpression von Patienten, die an der Glanzmann Thrombasthenie (GT) oder am Bernard-Soulier Syndrom (BSS) leiden, sollen diesen Review ergänzen. Darüber hinaus wird das HermanskyPudlak Syndrom (HPS) als eine bedeutende Störung der [uni03B4]-Granula Sekretion zusammen mit einer Fallbeschreibung eines Patienten, der an HPS Typ 1 leidet, beschrieben.

Summary

Inherited platelet disorders may be the cause of bleeding symptoms of varying severity as platelets fail to fulfil their haemostatic role after vessel injury. Platelet disorders may be difficult to diagnose (and are likely to be mis-diagnosed) and raise problems in therapy and management. This review explores the clinical and molecular genetic phenotype of several inherited disorders. Inherited platelet disorders can be classified according to their platelet defects: receptor defects (adhesion or aggregation), secretion disorder, and cytoskeleton defects.

The best characterized platelet receptor defects are Glanzmann thrombasthenia (inte-grin [uni03B1]IIb[uni03B2]3 defect) and Bernard-Soulier syndrome (defect of GPIb/IX/V). Detailed case reports of patients suffering from Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome (BSS) showing the bleeding diathesis as well as investigation of platelet aggregation/agglutination and platelet receptor expression will complement this review. In addition, Hermansky-Pudlak syndrome (HPS) as an important defect of [uni03B4]-granule secretion is extensively described together with a case report of a patient suffering from HPS type 1.

Schlüsselwörter

Bernard-Soulier Syndrom - Glanzmann Thrombasthenie - Hermansky-Pudlak Syndrom - thrombozytäre Rezeptoren - granuläre Sekretion 1

Keywords

Bernard-Soulier syndrome - Glanzmann thrombasthenia - Hermansky-Pudlak syndrome - platelet receptors - granule secretion
 

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