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82例糖原累积症Ⅰa型肝脏受累特点

唐晓艳 陈萌 马明圣 李明 邱正庆

唐晓艳, 陈萌, 马明圣, 李明, 邱正庆. 82例糖原累积症Ⅰa型肝脏受累特点[J]. 协和医学杂志, 2014, 5(4): 405-407. doi: 10.3969/j.issn.1674-9081.2014.04.010
引用本文: 唐晓艳, 陈萌, 马明圣, 李明, 邱正庆. 82例糖原累积症Ⅰa型肝脏受累特点[J]. 协和医学杂志, 2014, 5(4): 405-407. doi: 10.3969/j.issn.1674-9081.2014.04.010
Xiao-yan TANG, Meng CHEN, Ming-sheng MA, Ming Li, Zheng-qing QIU. Characteristic Liver Manifestations of Glycogen Storage Disease Type Ⅰa: A Retrospective Study of 82 Cases[J]. Medical Journal of Peking Union Medical College Hospital, 2014, 5(4): 405-407. doi: 10.3969/j.issn.1674-9081.2014.04.010
Citation: Xiao-yan TANG, Meng CHEN, Ming-sheng MA, Ming Li, Zheng-qing QIU. Characteristic Liver Manifestations of Glycogen Storage Disease Type Ⅰa: A Retrospective Study of 82 Cases[J]. Medical Journal of Peking Union Medical College Hospital, 2014, 5(4): 405-407. doi: 10.3969/j.issn.1674-9081.2014.04.010

82例糖原累积症Ⅰa型肝脏受累特点

doi: 10.3969/j.issn.1674-9081.2014.04.010
详细信息
    通讯作者:

    邱正庆 电话:010-69156276, E-mail:zhengqingqiu33@aliyun.com

  • 中图分类号: R725.8

Characteristic Liver Manifestations of Glycogen Storage Disease Type Ⅰa: A Retrospective Study of 82 Cases

More Information
  • 摘要:   目的  探讨糖原累积症(glycogen storage disease, GSD)Ⅰa型的肝脏受累特点。  方法  回顾性分析2006年1月至2013年12月在北京协和医院住院治疗的82例基因确诊为GSD Ⅰa型患儿的临床资料及肝脏影像学结果, 并总结其肝脏受累特点。  结果  82例GSDⅠa型患儿中, 男55例, 女27例; 出现症状平均年龄为(1.2±0.9)岁, 其中42例(54.9%)以发现肝脏肿大为首要原因就诊。13.4%(11/82)患儿出现肝脏腺瘤, 腺瘤出现年龄平均(15.7±3.0)岁(12~23岁); 63.6%(7/11)为多发腺瘤, 36.4%(4/11)为单发腺瘤。单发肝脏腺瘤均位于肝脏右叶, 多发腺瘤均表现为左叶及右叶均有分布。1例患儿行肝动脉栓塞治疗, 1例合并腺瘤癌变。  结论  GSD Ⅰa型是小儿较常见的导致肝脏肿大的遗传代谢病之一, 至青春期左右易发生肝脏腺瘤, 部分癌变。定期随诊腹部超声意义重大。对年长儿不明原因的多发肝脏腺瘤要注意鉴别GSD Ⅰa型。
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出版历程
  • 收稿日期:  2014-08-13
  • 刊出日期:  2014-10-30

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