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Current Knowledge on Inherited Platelet Function Disorders

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Author(s)
Nani Jung, Ye Jee Shim
Keimyung Author(s)
Jung, Nan IShim, Ye Jee
Department
Dept. of Pediatrics (소아청소년학)
Journal Title
Clinical Pediatric Hematology-Oncology
Issued Date
2020
Volume
27
Issue
1
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
Keimyung Author(s)(Kor)
정난이
심예지
Publisher
School of Medicine (의과대학)
Citation
Nani Jung, Ye Jee Shim. (2020). Current Knowledge on Inherited Platelet Function Disorders. Clinical Pediatric Hematology-Oncology, 27(1), 1–13. doi: 10.15264/cpho.2020.27.1.1
Type
Article
ISSN
2233-4580
Source
http://www.cpho.or.kr/journal/view.html?vol=27&num=1&page=1&year=2020
DOI
10.15264/cpho.2020.27.1.1
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/42671
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Pediatrics (소아청소년학)
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