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

作　　者：熊婷[1] 陈峰 叶瑶 钟龙青 徐忠金[2] 吴崇军 XIONG Ting;CHEN Feng;YE Yao;ZHONG Longqing;XU Zhongjin;WU Chongjun(Department of Endocrinology and Genetic Metabolism,Jiangxi Provincial Children's Hospital;Department of Hematology,Jiangxi Provincial Children's Hospita;Department of Laboratory Medicine,Jiangxi Provincial Children's Hospital,Nanchang,330000)

机构地区：[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

出　　处：《江西医药》2024年第4期345-348,共4页Jiangxi Medical Journal

基　　金：江西省教育厅科学技术研究项目重点项目,编号GJJ2203510;江西省卫生健康委员会科技计划项目,编号202211164。

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。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.Conclusion 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 

分 类 号：R555.1[医药卫生—血液循环系统疾病]