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.