演題詳細

一般口演 / Oral Session

一般口演 32 (Oral Session 32) :巨核球造血・血小板減少症

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日程
2013年10月11日(金)
時間
15:25 - 16:25
会場
第13会場 / Room No.13 (札幌市教育文化会館 3F 研修室301)
座長・司会
冨山 佳昭 (Yoshiaki Tomiyama):1
1:大阪大学医学部附属病院 輸血部
 
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Dominant inheritance of familial thrombocytopenia caused by integrin αIIbβ3 (GPIIb/IIIa) mutation

演題番号 : OS-1-164

津村 弥来 (Miyuki Tsumura):1、小林 良行 (Yoshiyuki Kobayashi):1、松井 啓隆 (Hirotaka Matsui):2、金井 昭教 (Akinori Kanai):2、岡田 賢 (Satoshi Okada):1、三木 瑞香 (Mizuka Miki):1、中村 和洋 (Kazuhiro Nakamura):1、國島 伸治 (Shinji Kunishima):3、稲葉 俊哉 (Toshiya Inaba):2、小林 正夫 (Masao Kobayashi):1

1:Department of Pediatrics, Hiroshima University、2:Research Institute for Radiation Biology and Medicine, Hiroshima University、3:Clinical Research Center, National Hospital Organization Nagoya Medical Center

 

Inherited diseases of platelets are heterogeneous group of rare disease, and it is assumed that there are many cases could not lead to definitive diagnosis. Here we report two Japanese families presenting thrombocytopenia transmitted as an autosomal dominant trait. In the two unrelated families 10 affected individuals and 4 non-affected individuals' clinical and laboratory data are available. The characteristics of these affected individuals are mild bleeding tendencies and thrombocytopenia with anisocytosis. Their platelet aggregation induced by ADP and collagen was markedly reduced.To isolate the candidate gene alternation, whole exome sequencimg analysis was applied. Consequently we identified heterozygous integrin β3-gene (ITGB3) L718P mutation in 4-generation 10 affected individuals. Resting platelets from affected individuals showed an increase of a ligand-mimicking PAC-1 binding. However, in ADP-treated platelets carrying this mutation, only a small increase of affinity to PAC-1 was observed. As previously reported by others, CHO cells expressing this mutation formed long proplatelet-like protrusions on fibrinogen-coated dishes. These findings suggest the gain-of-function mechanisms. We succeeded in leading to definitive diagnosis of familial thrombocytopenia in two unrelated families. It is important that careful collection of personal and familial clinical data and accurate appropriate laboratory tests to lead definitive diagnosis and appropriate treatments to the patients of inherited diseases of platelets.

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