以急性血管内溶血为首发表现的青少年遗传性球形红细胞增多症
Adolescent hereditary spherocytosis with acute intravascular hemolysis as the first manifestation
熊婷 1陈峰 2叶瑶 2钟龙青 3徐忠金 2吴崇军2
作者信息
- 1. 江西省儿童医院内分泌遗传代谢科
- 2. 江西省儿童医院血液二科
- 3. 江西省儿童医院检验科,南昌 330000
- 折叠
摘要
目的 提高临床医生对表现不典型、缺乏明确的家族遗传史HS患者的认识.方法 回顾一例以急性血管内溶血为首发表现的青少年HS患儿的临床资料并进行分析.结果 患儿,男,13 岁 3 月,以急性血管内溶血为首发表现,早期诊断不明确,后经基因检测最终确诊为球形红细胞增多症 2 型.结论 部分HS表现不典型、缺乏明确的家族遗传史,在诊断不确定或疑似HS的情况下,需进行基因检测.
Abstract
Objective To improve clinicians'understanding of patients with atypical and lacking a clear family genetic history of HS.Methods The clinical data of a case of adolescent HS children with acute intravascular hemolysis as the first manifestation were reviewed and analyzed.Results The patient,male,13 years and 3 months old,presented with acute intravascular hemolysis as the first manifestation.The early diagnosis was not clear,and finally confirmed as spherocytosis type 2 by genetic testing.Con-clusion Some HS manifestations are atypical and lack a clear family history,and genetic testing is required when the diagnosis is uncertain or suspected of HS.
关键词
血管内溶血/首发表现/青少年/遗传性球形红细胞增多症Key words
Intravascular hemolysis/First manifestation/Adolescent/Hereditary spherocytosis引用本文复制引用
基金项目
江西省教育厅科学技术研究项目重点项目(GJJ2203510)
江西省卫生健康委员会科技计划项目(202211164)
出版年
2024
NETL
NSTL
万方数据