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Current Knowledge on Inherited Platelet Function Disorders

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Author(s)
정난이심예지
Alternative Author(s)
Jung, Nan IShim, Ye Jee
Publication Year
2020
Keyword
Blood platelet disordersBernard-Soulier syndromePlatelet storage pool deficiencyGray platelet syndromeThrombastheniaPlatelet function tests
Abstract
Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of platelets, which include the following: 1) adhesion (e.g., Bernard?Soulier syndrome and pseudo-von Willebrand disease), 2) activation (e.g., adenosine diphosphatase receptor defect and thromboxane A2 receptor defect), 3) signal transduction and granule secretion (e.g., gray platelet syndrome, Paris?Trousseau/Jacobsen syndrome, Chediak?Higashi syndrome, and Hermansky?Pudlak syndrome), 4) aggregation (e.g., Glanzmann thrombasthenia), and 5) procoagulant activity (e.g., Scott syndrome). Patients with IPFDs typically present with unexpected mucocutaneous bleeding during early childhood. The diagnosis of these conditions requires several laboratory tests including complete blood cell count, peripheral blood smear, platelet function analysis, light-transmission aggregometry, flow cytometry, electron microscopy, and genetic analysis. Platelet transfusion has been the mainstay of treatment. However, antifibrinolytics, desmopressin, and recombinant activated factor VII are also effective when used as a monotherapy or adjunctive therapy. Importantly, the prevention of bleeding event is the most basic strategy in the management of IPFDs. This review aimed to assess the normal platelet physiology and summarize the current knowledge about the molecular defects, diagnostic evaluation, and treatment strategies of the respective IPFDs. If the cause of the bleeding tendency is difficult to identify, IPFDs should be considered.
Alternative Title
Current Knowledge on Inherited Platelet Function Disorders
Department
Dept. of Pediatrics (소아청소년학)
Publisher
School of Medicine (의과대학)
Citation
Clinical Pediatric Hematology-Oncology, Vol.27(1) : 1-13, 2020
Type
Article
ISSN
2233-4580
DOI
10.15264/cpho.2020.27.1.1
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/42671
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