Lester T J, Grabowski G A, Goldblatt J, Leiderman I Z, Zaroulis C G
Am J Med. 1984 Sep;77(3):569-71. doi: 10.1016/0002-9343(84)90124-4.
A 35-year-old Ashkenazi woman with Gaucher's disease was evaluated for persistent thrombocytopenia. The diagnosis of Gaucher's disease was made by bone marrow aspiration and confirmed by the determination of glucocerebrosidase levels in leukocytes and cultured skin fibroblasts. Studies of platelet-associated IgG and in vivo platelet survival demonstrated immune-mediated destruction of platelets consistent with immune thrombocytopenic purpura. A trial of prednisone had no effect on the platelet count. Total splenectomy resulted in a complete and prolonged remission. The clinical implications of Gaucher's disease and concurrent immune thrombocytopenic purpura are discussed.
一名患有戈谢病的35岁阿什肯纳兹女性因持续性血小板减少接受评估。通过骨髓穿刺诊断出戈谢病，并通过测定白细胞和培养的皮肤成纤维细胞中的葡糖脑苷脂酶水平得到证实。对血小板相关IgG和体内血小板存活情况的研究表明，血小板的免疫介导破坏与免疫性血小板减少性紫癜一致。泼尼松试验对血小板计数没有影响。全脾切除术导致完全且持久的缓解。本文讨论了戈谢病和并发免疫性血小板减少性紫癜的临床意义。
