CAJ | 학술논문

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。
목적：탐토당원루적증（ glycogen storage disease， GSD）Ⅰa형적간장수루특점。방법회고성분석2006년1월지2013년12월재북경협화의원주원치료적82례기인학진위GSD Ⅰa형환인적림상자료급간장영상학결과，병총결기간장수루특점。결과82례GSDⅠa형환인중，남55례，녀27례；출현증상평균년령위（1.2±0.9）세，기중42례（54.9％）이발현간장종대위수요원인취진。13.4％（11/82）환인출현간장선류，선류출현년령평균（15.7±3.0）세（12～23세）；63.6％（7/11）위다발선류，36.4％（4/11）위단발선류。단발간장선류균위우간장우협，다발선류균표현위좌협급우협균유분포。1례환인행간동맥전새치료，1례합병선류암변。결론 GSD Ⅰa형시소인교상견적도치간장종대적유전대사병지일，지청춘기좌우역발생간장선류，부분암변。정기수진복부초성의의중대。대년장인불명원인적다발간장선류요주의감별GSD Ⅰa형。
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 di-agnosed GSD Ⅰa patients hospitalized in Peking Union Medical College Hospital between January 2006 and De-cember 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 pa-tients (54.9%) visited doctors because of hepatomegaly .Eleven (13.4%) had hepatic adenomas , which ap-peared at the age of (15.7 ±3.0 ) years (12-23 years).Among them, 63.6% (7/11) had multiple adeno-mas, 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 GSDⅠa is one of the most com-mon 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 differenti-al diagnosis of multiple liver adenomas of unknown origin in older children , attention should be paid to the possi-bility of GSD Ⅰa.