磷酸甘露糖变位酶2缺乏症的诊治进展

周述艳

中国当代儿科杂志 ›› 2023, Vol. 25 ›› Issue (2) : 223-228.

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中国当代儿科杂志 ›› 2023, Vol. 25 ›› Issue (2) : 223-228. DOI: 10.7499/j.issn.1008-8830.2209049
综述

磷酸甘露糖变位酶2缺乏症的诊治进展

  • 周述艳
作者信息 +

Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency

  • ZHOU Shu-Yan
Author information +
文章历史 +

摘要

磷酸甘露糖变位酶2缺乏症是最常见的N-糖基化障碍,又称磷酸甘露糖变位酶2相关性先天性糖基化障碍(phosphomannomutase 2-congenital disorder of glycosylation,PMM2-CDG),是一种常染色体隐性遗传的多系统疾病,由PMM2基因(OMIM:601785)突变所致,病情轻重不一,目前尚无针对PMM2-CDG的特异疗法,早发现、早诊断、早治疗可有效延长患儿的生存年限。该文就PMM2-CDG的诊疗进展进行综述。

Abstract

Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM: 601785), with varying severities in individuals. At present, there is still no specific therapy for PMM2-CDG, and early identification, early diagnosis, and early treatment can effectively prolong the life span of pediatric patients. This article reviews the advances in the diagnosis and treatment of PMM2-CDG.

关键词

磷酸甘露糖变位酶2缺乏症 / 先天性糖基化障碍 / PMM2基因 / 基因突变

Key words

Phosphomannomutase 2 deficiency / Congenital disorder of glycosylation / PMM2 gene / Gene mutation

引用本文

导出引用
周述艳. 磷酸甘露糖变位酶2缺乏症的诊治进展[J]. 中国当代儿科杂志. 2023, 25(2): 223-228 https://doi.org/10.7499/j.issn.1008-8830.2209049
ZHOU Shu-Yan. Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(2): 223-228 https://doi.org/10.7499/j.issn.1008-8830.2209049

参考文献

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