Giant platelet syndrome / 소아과
Korean Journal of Pediatrics
;
: 833-838, 2006.
Article
in Korean
| WPRIM
| ID: wpr-47623
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thrombocytopenia
/
Transcription Factors
/
Blood Platelets
/
Bernard-Soulier Syndrome
/
Diagnosis
/
Gray Platelet Syndrome
Type of study:
Diagnostic study
Language:
Korean
Journal:
Korean Journal of Pediatrics
Year:
2006
Type:
Article
Similar
MEDLINE
...
LILACS
LIS