简珊;王薇;魏珉;邱正庆;
JIAN Shan;WANG Wei;WEI Min;QIU Zheng-qing;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

• 1:中国医学科学院 北京协和医学院 北京协和医院儿科

摘要(Abstract)：

目的探讨肾上腺素刺激试验在糖原累积症(glycogen storage disease,GSD)Ⅰ型、Ⅲ型分型中的诊断价值。方法回顾性分析北京协和医院1991年3月至2012年2月收治的经基因确诊的GSDⅠ型及Ⅲ型患者的临床资料,所有患者均完成空腹及餐后肾上腺素刺激试验。以基因诊断结果为金标准,分析空腹及餐后肾上腺素刺激试验对GSDⅠ型及Ⅲ型分型的诊断价值。结果 144例GSD患者中,男88例,女56例,平均年龄(5.77±4.58)岁;Ⅰa型68例,Ⅰb型20例,Ⅲ型56例。144例患者空腹刺激试验血糖均未明显增高。餐后刺激试验血糖明显升高44例,其中Ⅰ型8例,Ⅲ型36例,两组有效应患者的比例差异有统计学意义(P<0.01)。餐后肾上腺素刺激试验诊断GSDⅠ型的敏感度和特异度分别为90.9%和64.3%;诊断Ⅲ型的敏感度和特异度分别为64.3%和90.9%。年龄≤2.5岁较>2.5岁患者餐后刺激试验有效应者的比例差异有统计学意义(P<0.05)。年龄越大,肾上腺素刺激试验诊断敏感度和特异度越高。肾上腺素刺激试验诊断年龄>2.5岁的Ⅰ型患者的敏感度和特异度分别为95.4%和77.1%,诊断年龄>2.5岁的Ⅲ型患者的敏感度和特异度分别为77.1%和95.4%。结论肾上腺素刺激试验对GSDⅠ型和Ⅲ型的临床分型仍具有一定意义,尤其2.5岁以上的GSD患者结果可靠性更高。
Objective To analyze the value of epinephrine stimulation test in distinguishing type Ⅰ and type Ⅲ glycogen storage diseases( GSD). Methods The clinical data of genetically diagnosed type Ⅰ and ⅢGSD patients from March 1991 to February 2012 in Peking Union Medical College Hospital were retrospectively analyzed. All the patients finished fasting and postprandial epinephrine stimulation test. The diagnostic value of fasting and postprandial epinephrine stimulation test was evaluated against gene diagnosis as the gold standard.Results Totally,144 GSD patients( 88 males and 56 females) with an average age of( 5. 77 ± 4. 58) years were included. There were 68 cases of GSD type Ⅰa,20 cases of GSD type Ⅰb,and 56 cases of GSD type Ⅲ.Fasting epinephrine stimulation test showed no significant increase in blood glucose level in all the 144 patients,while postprandial epinephrine stimulation test exhibited that blood glucose level significantly increased in 44 cases,including 8 cases of type Ⅰ and 36 cases of type Ⅲ,with significant difference in the percentage of patients effective to the test between the two types( P < 0. 01). The sensitivity and specificity of postprandial epinephrine stimulation test in diagnosing GSD type Ⅰ were 90. 9% and 64. 3%,respectively,and those in diagnosing GSDtype Ⅲ were 64. 3% and 90. 9%,respectively. The sensitivity and specificity in patients ≤2. 5 years old were significantly lower than those in patients > 2. 5 years old( P < 0. 01). In patients > 2. 5 years,the sensitivity and specificity of epinephrine stimulation test were 95. 4% and 77. 1% in GSD Ⅰ,and 77. 1% and 95. 4% in GSD type Ⅲ. Conclusion Epinephrine stimulation test still can be helpful in distinguishing GSD type Ⅰ and GSD type Ⅲ,especially liable in patients > 2. 5 years old.

关键词(KeyWords)： 糖原累积症;肾上腺素刺激试验;基因诊断
glycogen storage disease;epinephrine stimulation test;gene diagnosis

Abstract:

Keywords:

基金项目(Foundation):

作者(Authors): 简珊;王薇;魏珉;邱正庆;
JIAN Shan;WANG Wei;WEI Min;QIU Zheng-qing;Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

参考文献(References)：

• [1]Froissart R,Piraud M,Boudjemline AM,et al.Glucose-6-phosphatase deficiency[J].Orphanet J Rare Dis,2011,6:27.
• [2]邱正庆,魏珉.中国人常见糖原累积症111例基因分型研究.中华医学会第五次全国儿科中青年学术交流大会[C].济南:中华医学会,2008.
• [3]Rake JP,Visser G,Labrune P,et al.Glycogen storage disease typeⅠ:diagnosis,management,clinical course and outcome.Results of the European Study on Glycogen Storage Disease Type l(ESGSD I)[J].Eur J Pediatr,2002,161:20-34.
• [4]Visser G,Rake JP,Labrune P,et al.Consensus guidelines for management of glycogen storage disease type 1b-European Study on Glycogen Storage Disease Type 1[J].Eur J Pediatr,2002,161:S120-S123.
• [5]Austin SL,Proia AD,Spencer-Manzon MJ,et al.Cardiac pathology in glycogen storage disease typeⅢ[J].JIMD Rep,2012,6:65-72.
• [6]Rake JP,Visser G,Labrune P,et al.Guidelines for management of glycogen storage disease typeⅠ-European Study on Glycogen Storage Disease TypeⅠ(ESGSDⅠ)[J].Eur J Pediatr,2002,161:S112-S119.
• [7]Kishnani PS,Austin SL,Arn P,et al.Glycogen storage disease typeⅢdiagnosis and management guidelines[J].Genet Med,2010,12:446-463.
• [8]胡亚美,江载芳.诸福棠实用儿科学[M].7版.北京:人民卫生出版社,2002:2125-2133.