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DOI: 10.1055/s-0030-1249065
© 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 KindesalterPublikationsverlauf
Publikationsdatum:
09. Juni 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.
Key Words
platelet function disorders - neonates - infants - children - developmental hemostasis - laboratory work-up
Schlüsselwörter
Thrombozytenfunktionsstörungen - Neugeborene - Säuglinge - Kinder - entwicklungsbedingte Besonderheiten - Vorgehen im Labor
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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
Telefon: +49/251/8347 783
Fax: +49/251/8347 828
eMail: leagottl@uni-munster.de