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題名 | Familial Macrothrombocytopenia with Granulocyte Inclusion:A Clinical and Laboratory Problem=家族性巨大血小板缺乏症合併顆粒球內涵體:臨床及實驗室的問題 |
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作者 | 林正修; 沈銘鏡; 王秋華; 林欽塘; | 書刊名 | 臺灣醫學會雜誌 |
卷期 | 97:2 1998.02[民87.02] |
頁次 | 頁118-122 |
分類號 | 415.62 |
關鍵詞 | 家族性; 巨大血小板缺乏症合併顆粒球內涵體; Idiopathic thrombocytopenic purpura; Familial macrothrombocytopenia; Giant platelet; Granulocyte inclusion; Sebastian platelet syndrome; |
語文 | 英文(English) |
英文摘要 | The differential diagnosis of familial macrothrombocytopenia and idiopathic thrombocytopenic purpura (ITP) may be difficult owing to the similarities in their clinical and laboratory presentations, but it is important because of dissimilarities in their management and prognosis. We investigated two families with familial macrothrombocytopenia and granulocyte inclusion. The probands of both families presented with mild bleeding tendency, macrothrombocytopenia, normal bone marrow, and increased percentages of platelet-associated immunoglobulin G (IgG) and reticulated platelets. ITP had been misdiagnosed in both patients initially. Both probands failed to respond to steroid therapy. Family study revealed and autosomal dominant pattern of heredity in both families, with absence of Alport's syndromelike features (hearing impairment, congenital cataract, and interstitial nephritis). All thrombocytopenic family members showed blue cytoplasmic inclusions in neutrophils on peripheral blood smears. Ultrastructurally, distinct granulocyte inclusions comprising clusters of rough endoplasmic reticulum, smooth endoplasmic reticulum, and polysomes were detected, without the presence of parallel filaments. The clinical, laboratory, and hereditary findings were consistent with a diagnosis of Sebastian platelet syndrome in both families. In conclusion, caution should be exercised when interpreting the percentages of platelet-associated IgG in thrombocytopenic patients, as overinterpretation may lead to misdiagnosis of macrothrombocytopenia as ITP. Family history is important, as familial ITP is rare, and careful examination of blood smears is essential. |
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