Klin Padiatr 2010; 222(3): 209-214
DOI: 10.1055/s-0030-1249065
Report

© Georg Thieme Verlag KG Stuttgart · New York

Diagnostic and Therapeutic Considerations on Inherited Platelet Disorders in Neonates and Children

Diagnostische und therapeutische Aspekte bei angeborenen Thrombozytenfunktionsstörungen im KindesalterN. Schlegel1 , V. Bardet1 , G. Kenet2 , W. Muntean3 , B. Zieger4 , U. Nowak-Göttl5 Working Group on Standardisation in Perinatal and Pediatric Hemostasis
  • 1Service d’Hématologie Biologique, Hôpital Robert Debré, Paris, France
  • 2The National Hemophilia Center and Institute of Thrombosis and Hemostasis, Tel-Hashomer, Israel
  • 3Ludwig Boltzmann Research Institute for Pediatric Thrombosis and Haemostasis, Department of Pediatrics, University of Graz, Austria
  • 4Department of Pediatrics and Adolescent Medicine, University of Freiburg, Germany
  • 5Univ.-Children's Hospital, Pediatric Hematology/Oncology, UK Münster, Germany
Further Information

Publication History

Publication Date:
09 June 2010 (online)

Abstract

Inherited disorders of platelets constitute a group of rare diseases that give rise to bleeding syndromes of variety severity, with more severe cases being first diagnosed during infancy and childhood. To appropriate diagnose a platelet function disorder during early childhood the knowledge of the physiological characteristics of platelets in the paediatric population is mandatory. Apart from thrombocytopenia which is quite common in neonates and children the present overview is aimed to focus on inherited platelet function disorders. Furthermore, knowledge on platelet maturation and reference values according to age are given, and a diagnostic strategy specifically adapted to a pediatric population is presented on the bases of plasmatic and molecular laboratory methodologies. Finally, therapeutic approaches are briefly summarized (antifibrinolytic agents, Desmopressin, HLA-matched platelets, recombinant factor VIIa).

Zusammenfassung

Angeborene Störungen der Plättchenfunktion sind selten und können durch eine unterschiedlich stark ausgeprägte Blutungsneigung klinisch auffällig werden. Schwere Störungen der Thrombozytenfunktion treten bereits im Säuglings- und Kindesalter auf. Um Störungen der Thrombozytenfunktion adäquat abklären zu können, ist die Kenntnis der altersabhängigen Plättchenphysiologie erforderlich. Neben den Ursachen für eine Thrombozytopenie, der häufigsten thrombozytären Störung im Kindesalter, fasst dieser Überblick entwicklungsbedingte Besonderheiten und altersabhängige Referenzwerte zusammen. Neben einem diagnostischen Algorithmus, basierend sowohl auf Untersuchungen im plättchenreichen Plasma als auch auf mole-kulargenetischer Ebene, werden die verfügbaren Therapieoptionen (Antifibrinolytika, Desmopressin, HLA-typisierte Thrombozytentransfusionen, rekombinanter Faktor VIIa) zusammengefasst.

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Correspondence

Prof. Dr. Ulrike Nowak-Göttl 

UK Münster

Univ.-Children's Hospital

Pediatric Hematology/

Oncology

Chief pediatric coagulation

laboratory

Albert-Schweitzer-Straße 33

48149 Münster

Germany

Phone: +49/251/8347 783

Fax: +49/251/8347 828

Email: leagottl@uni-munster.de