Expert consensus on the diagnosis， treatment and prevention of glycogen storage disease type Ia

doi:10.19538/j.ek2022090601

Chinese Journal of Practical Pediatrics ›› 2022, Vol. 37 ›› Issue (9): 641-649.DOI: 10.19538/j.ek2022090601

Online:2022-09-06 Published:2022-09-27

糖原累积病Ⅰa型的诊断治疗和预防专家共识

执　笔：陈永兴，梁黎黎，王晓建，张宏武，邱文娟，张　尧制订专家（按单位首字及姓氏汉语拼音顺序排序）：北京大学第一医院（陈哲晖，董　慧，窦　攀，熊　晖，杨艳玲，张　尧，张宏武）；北京大学第三医院（闫丽莹）；北京协和医院（杜函泽）；重庆医科大学附属儿童医院（郭　艺，朱　岷）；复旦大学附属儿科医院（陆　炜，罗飞宏，王建设，张雪媛）；广州市妇女儿童医疗中心（黄永兰，刘　丽）；河北医科大学第二医院（张会丰）；河南省儿童医院（陈永兴，王海军，卫海燕）；河南中医药大学第一附属医院（郑　宏，马丙祥）；湖南省儿童医院（王　华）；华中科技大学同济医学院附属同济医院（梁　雁，罗小平）；华中科技大学同济医学院附属武汉儿童医院（陈晓红）；吉林大学白求恩第一医院（杜红伟，吕国悦，张一宁）；江西省儿童医院（杨　玉）；江西省赣州市妇幼保健院（刘诗贤，张　峰）；清华大学附属垂杨柳医院（谷现恩）；山东省立医院（商晓红）；山东省济南市妇幼保健院（韩炳娟，邹　卉）；山西省儿童医院（关函洲，阎亚琼，张改秀）；山西医科大学第一医院（武师润）；上海交通大学医学院附属新华医院（顾学范，韩连书，何大可，梁黎黎，邱文娟，朱月钮）；上海交通大学医学院附属上海儿童医学中心（王　剑）；上海交通大学学院附属儿童医院（李　嫔）；首都儿科研究所（张　彤）；首都儿科研究所附属儿童医院（王　琳）；首都医科大学附属北京地坛医院（杨　松）；首都医科大学附属北京儿童医院（巩纯秀）；首都医科大学附属北京妇产医院（孔元原，庄太凤）；首都医科大学附属北京友谊医院（孙丽莹，王文营，朱志军）；首都医科大学附属北京安贞医院（顾　虹）；首都医科大学附属北京佑安医院（郑素军）；四川省成都市第一人民医院（董小丽）；天津医科大学总医院（郑荣秀）；厦门大学附属第一医院（刘登礼）；厦门大学附属妇女儿童医院、厦门市妇幼保健院（陆　妹）；郑州大学第三附属医院（贾天明，赵德华，朱登纳）；郑州大学第一附属医院（吴　静）；浙江大学医学院附属第二医院（冯建华）；浙江大学医学院附属儿童医院（陈　洁，黄新文，杨茹莱）；中国科学院大学深圳医院（吴本清）；中国人民解放军总医院第一医学中心（孟　岩，邹丽萍）；中国人民解放军总医院第五医学中心（何玺玉，朱世殊）；中国医科大学附属盛京医院（麻宏伟，孙　梅，王　华）；中日友好医院（李晓雯，张知新）；中国医学科学院阜外医院（王晓建，吴　艳）

通讯作者: 邱文娟，电子信箱：qiuwenjuanxh@163.com；张尧，电子信箱：zy_tzh@163.com
基金资助:
国家重点研发计划（2019YFC1005100）；深圳市工程研究中心（工程实验室）组建项目（F-2020-Z99-502615）；湖南省出生缺陷协同防治科技重大专项（2019SK1010）

Abstract

Abstract: Glycogen storage disease type Ia （GSDIa） is a rare but treatable autosomal recessive disease. Glucose 6-phosphatase deficiency is caused by G6PC gene variations， which results in increased glycogen accumulation in the liver， kidneys and intestine. Patients with GSDIa often have multi-organ damage， such as fasting hypoglycemia， hepatomegaly， short stature and renal disease. The diagnosis can be made by the combination of clinical manifestations， biochemical metabolic assays and genetic testing. Individualized dietary treatment can improve the prognosis of most patients. Genetic counseling and prenatal diagnosis can prevent the recurrence risk of high-risk families. In order to improve the strategies for the diagnosis， treatment and prevention of GSDIa and promote the standerdized diagnosis and treatment GSDIa， the consensus was developed by a multidisciplinary team based on domestic and international research progress and guidelines.

Key words: glycogen storage disease type Ia, liver disease, hypoglycemia, consensus

摘要： 糖原累积病Ia型（glycogen storage disease type Ia， GSDIa）是一种可治疗的罕见病，为常染色体隐性遗传病。由于G6PC基因变异导致葡萄糖-6-磷酸酶活性不足，糖原在肝脏、肾脏和小肠中过度累积，患者常有空腹低血糖、肝肿大、矮小及肾脏病变等多系统损害。GSDIa的确诊需结合临床表现、生化代谢、基因检测等综合判断，个体化饮食治疗可改善多数患者的预后，通过遗传咨询及产前诊断可以预防高危家庭的再发风险。为提升医务工作者对GSDIa型的诊断、治疗及防控能力，推动GSDIa型的规范化诊断和治疗，结合国内外研究进展和指南，国内多学科同行制定本共识。

关键词: 糖原累积病Ia型, 肝病, 低血糖, 共识

Birth Defects Prevention and Molecular Genetics Branch of China Maternal and Child Health Association, Early Child Development Branch of China Maternal and Child Health Association, Division of Genetics and Metabolism of Child Diseases and Health Care Branch of China Maternal and Child Health Association, et al.. Expert consensus on the diagnosis， treatment and prevention of glycogen storage disease type Ia[J]. Chinese Journal of Practical Pediatrics, 2022, 37(9): 641-649.

中国妇幼保健协会出生缺陷防治与分子遗传分会, 中国妇幼保健协会儿童早期发展专业委员会, 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组, 等. 糖原累积病Ⅰa型的诊断治疗和预防专家共识[J]. 中国实用儿科杂志, 2022, 37(9): 641-649.

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