摘要
目的分析GNE基因相关血小板减少症的临床特征和诊疗效果。方法回顾性分析1例GNE基因相关血小板减少症患儿资料并归纳文献报道病例,对临床表型和诊疗特点进行分析。结果31例患儿主要起病于新生儿或儿童早期,表现为皮肤黏膜出血,26例伴巨大血小板,4例成年后进展为GNE肌病。总体疗效欠佳,5例对促血小板生成药物应答良好。结论GNE基因相关血小板减少症以中重度血小板减少、巨大血小板及出血倾向为特征,部分患儿可继发GNE肌病,需早期识别并探索有效疗法。
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.
作者
林硕
陈晓娟
LIN Shuo;CHEN Xiao-Juan(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)
出处
《中国当代儿科杂志》
北大核心
2025年第6期723-730,共8页
Chinese Journal of Contemporary Pediatrics
