[GNE基因相关性血小板减少1例报告及文献复习]。

Q3 Medicine

中国当代儿科杂志 Pub Date : 2025-06-15 DOI:10.7499/j.issn.1008-8830.2412065

Shuo Lin, Xiao-Juan Chen

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引用次数: 0

摘要

目的：探讨GNE基因相关性血小板减少症的临床特点及治疗效果。方法：回顾性分析1例GNE基因相关血小板减少症患儿的资料，并对文献报道的病例进行复习，重点分析临床表型和治疗特点。结果：31例患者主要发病于新生儿期或幼儿期，以皮肤粘膜出血为特征。26例出现大血小板，4例在成年期发展为GNE肌病。总体治疗效果不理想，尽管有5例患者对血小板生成药物反应良好。结论：GNE基因相关的血小板减少症以中度至重度血小板减少、巨血小板减少和出血倾向为特征。一些儿童可能发展继发性GNE肌病，强调需要早期识别和探索有效的治疗方法。

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[GNE gene-related thrombocytopenia: a case report and literature review].

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.

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来源期刊

中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.50

自引率

0.00%

发文量

5006

期刊介绍： The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R；ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.