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汤婷婷, 巫丽丽, 周园媛, 等. 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. DOI: 10.12025/j.issn.1008-6358.2024.20231981
引用本文: 汤婷婷, 巫丽丽, 周园媛, 等. 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. DOI: 10.12025/j.issn.1008-6358.2024.20231981
TANG Tingting, WU Lili, ZHOU Yuanyuan, et al. Clinical characteristics analysis of glycogen storage disease type Ⅰa[J]. Chinese Journal of Clinical Medicine, 2024, 31(2): 241-245. DOI: 10.12025/j.issn.1008-6358.2024.20231981
Citation: TANG Tingting, WU Lili, ZHOU Yuanyuan, et al. Clinical characteristics analysis of glycogen storage disease type Ⅰa[J]. Chinese Journal of Clinical Medicine, 2024, 31(2): 241-245. 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

  • 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GSD Ⅰa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。

     

    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.

     

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