协和医学杂志

2014, v.5(04) 405-407

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82例糖原累积症Ⅰa型肝脏受累特点
Characteristic Liver Manifestations of Glycogen Storage Disease Type Ⅰa:A Retrospective Study of 82 Cases

唐晓艳;陈萌;马明圣;李明;邱正庆;
TANG Xiao-yan;CHEN Meng;MA Ming-sheng;Li Ming;QIU Zheng-qing;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

摘要(Abstract):

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GSDⅠa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 GSDⅠa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GSDⅠa型。
Objective To summarize the characteristic liver manifestations of glycogen storage disease typeⅠa( GSDⅠa). Methods We retrospectively analyzed the clinical data and liver image results of 82 genetically diagnosed GSD Ⅰa patients hospitalized in Peking Union Medical College Hospital between January 2006 and December 2013,and summarized the characteristics of liver involvement of these patients. Results The 82 patients included 55 boys and 27 girls. Their symptoms developed at the mean age of( 1. 2 ± 0. 9) years. Forty-two patients( 54. 9%) visited doctors because of hepatomegaly. Eleven( 13. 4%) had hepatic adenomas,which appeared at the age of( 15. 7 ± 3. 0) years( 12- 23 years). Among them,63. 6%( 7 /11) had multiple adenomas,and the other( 36. 4%,4 /11) had single ones. The single adenomas were all located in the right lobe of the liver,and the multiple adenomas all involved both left and right lobes of the liver. One child received hepatic arterial embolization. One child had adenoma with canceration. Conclusions GSD Ⅰa is one of the most common hereditary metabolic diseases,which can cause hepatomegaly in chidren and liver adenoma in adolescents,some developing into cancer. Regular follow-up with abdominal ultrasound examination is important. In differential diagnosis of multiple liver adenomas of unknown origin in older children,attention should be paid to the possi-bility of GSD Ⅰa.

关键词(KeyWords): 糖原累积症Ⅰa型;肝脏;腺瘤
glycogen storage disease Ⅰa;liver involvement;adenoma

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作者(Author): 唐晓艳;陈萌;马明圣;李明;邱正庆;
TANG Xiao-yan;CHEN Meng;MA Ming-sheng;Li Ming;QIU Zheng-qing;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

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