中国临床医学2024，Vol.31Issue(2)：241-245,5.DOI:10.12025/j.issn.1008-6358.2024.20231981
Ⅰa型糖原贮积症临床特征分析
Clinical characteristics analysis of glycogen storage disease type Ⅰa
汤婷婷 1巫丽丽 2周园媛 3林寰东 4颜红梅5
作者信息
- 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||复旦大学附属中山医院内分泌科,上海 200032
- 2. 广西医科大学附属肿瘤医院综合内科,南宁 530021
- 3. 昆明医科大学第六附属医院内分泌代谢科,玉溪 653100
- 4. 复旦大学附属中山医院内分泌科,上海 200032
- 5. 复旦大学附属中山医院内分泌科,上海 200032||复旦大学附属中山医院吴淞分院内分泌科,上海 200940
- 折叠
摘要
Abstract
Objective To summarize clinical characteristics of both adult and pediatric patients with glycogen storage disease type Ⅰa(GSDⅠa),and to improve clinicaians'understanding of GSDⅠa.Methods The clinical data of 10 patients diagnosed with GSDⅠa 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 GSDⅠa 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 GSDⅠa 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 GSDⅠa patients.关键词
糖原贮积症/成人/肝腺瘤/轻度低血糖Key words
glycogen storage disease/adult/hepatic adenoma/mild hypoglycemia分类
医药卫生引用本文复制引用
汤婷婷,巫丽丽,周园媛,林寰东,颜红梅..Ⅰa型糖原贮积症临床特征分析[J].中国临床医学,2024,31(2):241-245,5.
