Ⅰa型糖原贮积症临床特征分析  

Clinical characteristics analysis of glycogen storage disease type Ⅰa

作　　者：汤婷婷 巫丽丽[3] 周园媛[4] 林寰东 颜红梅 TANG Tingting;WU Lili;ZHOU Yuanyuan;LIN Huandong;YAN Hongmei(Department of Geriatric,Yancheng Clinical Medical School of Jiangsu University,The First People’s Hospital of Yancheng,Yancheng 224200,Jiangsu,China;Department of Endocrinology,Zhongshan Hospital,Fudan University,Shanghai 200032,China;Department of Integrated Medicine,Guangxi Medical University Cancer Hospital,Nanning 530021,Guangxi,China;Department of Endocrinology and Metabolism,Sixth Affiliated Hospital of Kunming Medical University,Yuxi 653100,Yunnan,China;Department of Endocrinology,Zhongshan Hospital(Wusong Branch),Fudan University,Shanghai 200940,China)

机构地区：[1]江苏大学盐城临床医学院盐城市第一人民医院老年医学科,盐城224200 [2]复旦大学附属中山医院内分泌科,上海200032 [3]广西医科大学附属肿瘤医院综合内科,南宁530021 [4]昆明医科大学第六附属医院内分泌代谢科,玉溪653100 [5]复旦大学附属中山医院吴淞分院内分泌科,上海200940

出　　处：《中国临床医学》2024年第2期241-245,共5页Chinese Journal of Clinical Medicine

基　　金：国家自然科学基金(92249302,92357304);国家重点研发计划项目(2019YFA0801900,2018YFA0800300);教育部产学合作协同育人项目(230806594084855);复旦大学附属中山医院科研发展基金(2023ZSFZ36);厦门市医疗卫生指导性项目(3502Z20209043);云南省科技厅-昆明医科大学应用基础研究联合专项(202101AY070001-199).

摘　　要：目的总结成人与儿童糖原贮积症(glycogen storage disease,GSD)Ⅰa型的临床特征,提高临床医生对成人GSDⅠa型的认识。方法纳入2010至2023年在复旦大学附属中山医院住院的GSDⅠa型患者共10例,其中成人组(19~36岁)5例、儿童组(0.5~11岁)5例,比较两组患者临床表现及生化特点。结果成人组和儿童组均有高三酰甘油血症、高尿酸血症、高乳酸血症;成人组以肝腺瘤(5例)、痛风(4例)表现更明显,儿童组以低血糖(3例)、肝肿大(4例)及生长发育迟缓(3例)为主要表现。结论GSDⅠa型患者常有代谢异常综合征,主要为高三酰甘油血症、高尿酸血症、高乳酸血症,其中成人患者常合并肝腺瘤,可表现为低血糖或接近正常低值的空腹血糖,上述临床表现组合可作为其诊断依据。Objective To summarize clinical characteristics of both adult and pediatric patients with glycogen storage disease type Ⅰa(GSD Ⅰa),and to improve clinicaians’understanding of GSD Ⅰa.Methods The clinical data of 10 patients diagnosed with GSD Ⅰa at Zhongshan Hospital,Fudan University between 2010 and 2023 were collected,including 5 adults and 5 children.The clinical manifestations and biochemical characteristics of the two groups were compared.Results Both adult and pediatric GSD Ⅰa patients had hypertriglyceridemia,hyperuricemia,and hyperlactatemia.More adult patients had hepatic adenoma(5 cases)and gout(4 cases),while more pediatric patients had hypoglycemia(3 cases),hepatomegaly(4 cases),and growth retardation(3 cases).Conclusions The GSD Ⅰa patients often have abnormal metabolic syndrome,mainly including hypertriglyceridemia,hyperuricemia and hyperlactatemia.Adult patients are often complicated with hepatic adenomas,and may have hypoglycemia or fasting glucose close to normal low value,and a combination of such clinical manifestations may be used as a diagnostic basis for adult GSD Ⅰa patients.

关 键 词：糖原贮积症 成人 肝腺瘤 轻度低血糖 

分 类 号：R563.3[医药卫生—呼吸系统]