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KMID : 0882419960510020256
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Korean Journal of Medicine
1996 Volume.51 No. 2 p.256 ~ p.263
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Two Cases of Glanzmann's Thrombasthenia in Brother and Syster Diagnosed by Flow-cytometry
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백석기
허완재/임채호/성낙현/김재삼/현정례/김동진/박훈기/박경식
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Abstract
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Glanzmann's thrombasthenia is a rare autosomal recessive genetic disorder of platelet function. It is caused by the deficiency or abnormality of the major platelets glycoprotein(GP)IIb-IIIa complex. Glanzmann's thrombasthenic platelets show no
aggregation in response to the stimulation of ADP and platelet agonist(epinephrine, collagen), but it show aggregation in response to ristocetin. The platelet membrane glycoprotein IIb-IIIa complex is involved in cell to cell interaction and cell
to
matrix fibronectin interaction.
Because the binding of fibrinogen allows platelets to aggregate, the binding of platelets on the subendothelium. The absence of defect of this receptor cause the platelet bleeding disorder called Glanzmann's Thrombasthenia.
We experienced two cases of Glanzmann's thrombasthenia in 16-year-old female and 15-year-old male. They are from the same family, but they parents and older sister had no history of bleeding tendency. The 16-year-old female showed frequent
epistaxis,
showed frequent gum bleeding for the past 5 -years, and the was prone to bruise since she was 11-year-old. Her 15-year-old brother showed similar symptom. On platelet aggregation test, mother showed normal response. but her two child showed no
response
to ADP, epinephrine and collagen, but showed normal response to ristocetin. They were diagnosed as Glanzmann's Thrombasthenia by the analysis of Glycoprotein on platelet membrane by Flow-cytometry. The review of the literature was made briefly.
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