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首例 MYH9 相关性血小板减少症患儿手术前应用艾曲波帕成功。

First successful use of eltrombopag before surgery in a child with MYH9-related thrombocytopenia.

机构信息

Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children’s Hospital, French Reference Centre for Inherited Platelet Disorders, Paris, France.

出版信息

Pediatrics. 2013 Sep;132(3):e793-5. doi: 10.1542/peds.2012-3807. Epub 2013 Aug 12.

Abstract

MYH9-related disease (MYH9-RD) is one of the most frequent autosomal-dominant forms of inherited macrothrombocytopenias and is caused by mutations in MYH9 (nonmuscle myosin IIA), the gene coding for the heavy chain of the nonmuscle myosin IIA. Affected individuals can present with isolated thrombocytopenia, and whereas only some will have bleeding events requiring intervention, nearly all will require the use of prophylactic platelet transfusions before surgery. Here we report the first prophylactic use of eltrombopag before surgery in a child with MYH9-RD. Our patient was a 13-year-old girl with an MYH9 S96L missense mutation who required a tympanoplasty due to chronic otitis media. Pretreatment microscopic platelet count was 10 × 10(9)/L. The child was treated with eltrombopag starting 4 weeks before her planned surgery. On the day of surgery her platelet count was 70 × 10(9)/L. She required no platelet transfusions and no abnormal bleeding was reported either during surgery or postoperatively. Given these results, the first reported in a child, we suggest that the use of this thrombopoietic agent should be further evaluated as a useful presurgical prophylactic option in this hereditary thrombocytopenia, thus avoiding the use of platelet transfusions and their associated risks, which include alloimmunization and the transmission of infectious agents.

摘要

MYH9 相关疾病(MYH9-RD)是最常见的常染色体显性遗传性巨血小板减少症之一,由 MYH9(非肌肉肌球蛋白 IIA)基因突变引起,该基因编码非肌肉肌球蛋白 IIA 的重链。受影响的个体可能表现为孤立性血小板减少症,尽管只有一些人会发生需要干预的出血事件,但几乎所有人在手术前都需要预防性血小板输注。在这里,我们报告了首例 MYH9-RD 患儿在手术前预防性使用艾曲泊帕。我们的患者是一名 13 岁女孩,携带 MYH9 S96L 错义突变,因慢性中耳炎需要进行鼓室成形术。术前显微镜下血小板计数为 10×10(9)/L。该患儿在计划手术前 4 周开始使用艾曲泊帕治疗。手术当天,她的血小板计数为 70×10(9)/L。她无需血小板输注,且术中及术后均未报告异常出血。鉴于这些结果,这是首例在儿童中报道的结果,我们建议进一步评估这种促血小板生成剂作为遗传性血小板减少症手术前的一种有用的预防选择,从而避免血小板输注及其相关风险,包括同种免疫和传染性病原体的传播。

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