Suppr超能文献

May-Hegglin异常:一种常见主诉的罕见病因。

The May-Hegglin anomaly: a rare cause of a common complaint.

作者信息

Reddy Priyanka, Kollipara Revathi, Shammo Jamile M, Loew Jerome

机构信息

Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, USA.

Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, USA

出版信息

BMJ Case Rep. 2021 Mar 1;14(3):e235432. doi: 10.1136/bcr-2020-235432.

Abstract

May-Hegglin anomaly is the presentation of a qualitative platelet disorder characterised by large platelets, thrombocytopenia and granulocyte inclusions as a result of mutations in the gene. Though often overlooked given its rarity, it should be considered in patients who present with epistaxis, bruising, menorrhagia and easy bleeding as it can be mistaken for other diagnoses resulting in unnecessary treatments and tests. Our case study reports one presentation of this anomaly and can help broaden awareness of the presentation of this type of patient.

摘要

May-Hegglin异常是一种定性血小板疾病的表现,其特征为存在大血小板、血小板减少以及粒细胞包涵体,这是由该基因的突变所致。尽管因其罕见性常被忽视,但对于出现鼻出血、瘀斑、月经过多和容易出血的患者应予以考虑,因为它可能被误诊为其他疾病,从而导致不必要的治疗和检查。我们的病例研究报告了这种异常的一种表现形式,有助于提高对这类患者表现的认识。

相似文献

本文引用的文献

5
May hegglin anomaly: rare entity with review of literature.马-赫格利畸形:罕见病症并文献复习
Indian J Hematol Blood Transfus. 2012 Mar;28(1):58-60. doi: 10.1007/s12288-011-0093-z. Epub 2011 Jun 28.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验