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

Shuo LIN, Xiao-Juan CHEN

Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (6) : 723-730.

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Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (6) : 723-730. DOI: 10.7499/j.issn.1008-8830.2412065
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GNE gene-related thrombocytopenia: a case report and literature review

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Abstract

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.

Key words

Thrombocytopenia / GNE gene mutation / Congenital thrombocytopenia / Neonate

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Shuo LIN , Xiao-Juan CHEN. GNE gene-related thrombocytopenia: a case report and literature review[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(6): 723-730 https://doi.org/10.7499/j.issn.1008-8830.2412065

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