...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Clinical kidney journal. >Myosin heavy chain-9-related disorders (MYH9-RD): a case report
【24h】

Myosin heavy chain-9-related disorders (MYH9-RD): a case report

机译：肌球蛋白重链9相关疾病（MYH9-RD）：病例报告

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impairment and presenile cataracts. A 44-year-old Caucasian man was initially thought to have Alport's syndrome and thrombocytopaenia secondary to idiopathic thrombocytopaenic purpura (ITP). A detailed family history and genetic analysis revealed a diagnosis of MYH9-RD. This case highlights the implications of a delayed diagnosis and the ongoing challenges encountered during management of individuals with this condition.
机译：肌球蛋白重链9相关疾病（MYH9-RDs）是由MYH9基因突变引起的常染色体显性疾病。这些特征包括先天性大血小板减少症，嗜中性粒细胞的包涵体以及发生感音神经性耳聋，进行性肾功能不全和老年性白内障的可变风险。最初认为一名44岁的白人男子患有Alport综合征和继发于特发性血小板减少性紫癜（ITP）的血小板减少症。详细的家族史和遗传分析显示出MYH9-RD的诊断。该病例突出了延迟诊断的含义以及在管理这种情况下个人面临的持续挑战。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号