Clinical characteristics analysis of glycogen storage disease type Ⅰa
10.12025/j.issn.1008-6358.2024.20231981
- VernacularTitle:Ⅰa型糖原贮积症临床特征分析
- Author:
Tingting TANG
1
,
2
;
Lili WU
;
Yuanyuan ZHOU
;
Huandong LIN
;
Hongmei YAN
Author Information
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
- Keywords:
glycogen storage disease;
adult;
hepatic adenoma;
mild hypoglycemia
- From:
Chinese Journal of Clinical Medicine
2024;31(2):241-245
- CountryChina
- Language:Chinese
-
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.
