GNE gene-related thrombocytopenia:a case report and literature review
10.7499/j.issn.1008-8830.2412065
- VernacularTitle:GNE基因相关血小板减少症1例报道并文献复习
- Author:
Shuo LIN
1
;
Xiao-Juan CHEN
1
Author Information
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
- Publication Type:Journal Article
- Keywords:
Thrombocytopenia;
GNE gene mutation;
Congenital thrombocytopenia;
Neonate
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(6):723-730
- CountryChina
- Language:Chinese
-
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.
