{"title":"[<i>GNE</i> gene-related thrombocytopenia: a case report and literature review].","authors":"Shuo Lin, Xiao-Juan Chen","doi":"10.7499/j.issn.1008-8830.2412065","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To study the clinical characteristics and treatment outcomes of <i>GNE</i> gene-related thrombocytopenia.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the data of one child with <i>GNE</i> gene-related thrombocytopenia, along with a review of cases reported in the literature, focusing on clinical phenotypes and treatment characteristics.</p><p><strong>Results: </strong>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 <i>GNE</i> myopathy in adulthood. Overall treatment efficacy was suboptimal, although 5 cases responded well to thrombopoietic agents.</p><p><strong>Conclusions: </strong><i>GNE</i> gene-related thrombocytopenia is characterized by moderate to severe thrombocytopenia, macrothrombocytes, and a bleeding tendency. Some children may develop secondary <i>GNE</i> myopathy, highlighting the need for early identification and exploration of effective therapies.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 6","pages":"723-730"},"PeriodicalIF":0.0000,"publicationDate":"2025-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国当代儿科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7499/j.issn.1008-8830.2412065","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
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.
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.
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