Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Giant platelet syndrome

거대혈소판 증후군

  • Kook, Hoon (Department of Pediatrics, Chonnam National University Medical School)
  • 국훈 (전남대학교 의과대학 소아과학교실)
  • Received : 2006.06.01
  • Accepted : 2006.07.01
  • Published : 2006.08.15
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Abstract

Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the molecular level. Abnormalities in transcription factors are implicated in a couple of macrothrombocytopenia syndromes. However, the molecular defects are unknown in gray platelet syndrome. It is important to make a proper diagnosis of congenital macrothrombocytopenia to avoid unnecessary medications and potentially dangerous treatment for presumed ITP.

Keywords

References

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