GNE gene-related thrombocytopenia: a case report and literature review.
10.7499/j.issn.1008-8830.2412065
- Author:
Shuo LIN
1
;
Xiao-Juan CHEN
1
Author Information
1. State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.
- Publication Type:English Abstract
- Keywords:
Congenital thrombocytopenia;
GNE gene mutation;
Neonate;
Thrombocytopenia
- MeSH:
Child;
Humans;
Multienzyme Complexes/genetics*;
Thrombocytopenia/drug therapy*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(6):723-730
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES: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.
