中国当代儿科杂志2025，Vol.27Issue(6)：723-730,8.DOI:10.7499/j.issn.1008-8830.2412065
GNE基因相关血小板减少症1例报道并文献复习
GNE gene-related thrombocytopenia:a case report and literature review
林硕 1陈晓娟1
作者信息
- 1. 中国医学科学院血液病医院(中国医学科学院血液学研究所),血液与健康全国重点实验室,国家血液系统疾病临床医学研究中心,细胞生态海河实验室,天津 300020||天津医学健康研究院,天津 301600
- 折叠
摘要
Abstract
Objective To study the clinical characteristics and treatment outcomes of GNE gene-related thrombocytopenia.Methods A retrospective analysis was conducted on the data of one child with GNE gene-related thrombocytopenia,along with a review of cases reported in the literature,focusing on clinical phenotypes and treatment characteristics.Results Among 31 patients,the onset was primarily in the neonatal period or early childhood,characterized by mucocutaneous bleeding.Twenty-six cases presented with macrothrombocytes,and 4 cases progressed to GNE myopathy in adulthood.Overall treatment efficacy was suboptimal,although 5 cases responded well to thrombopoietic agents.Conclusions GNE gene-related thrombocytopenia is characterized by moderate to severe thrombocytopenia,macrothrombocytes,and a bleeding tendency.Some children may develop secondary GNE myopathy,highlighting the need for early identification and exploration of effective therapies.关键词
血小板减少/GNE基因突变/先天性血小板减少症/新生儿Key words
Thrombocytopenia/GNE gene mutation/Congenital thrombocytopenia/Neonate引用本文复制引用
林硕,陈晓娟..GNE基因相关血小板减少症1例报道并文献复习[J].中国当代儿科杂志,2025,27(6):723-730,8.
