糖原累积病Ⅰa型的诊断治疗和预防专家共识  

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

作　　者：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 中国医师协会儿科医师分会内分泌遗传代谢学组 中国医师协会儿科医师分会青春期医学专业委员会临床遗传学组及生化学组 中华预防医学会残疾预防与控制专业委员会 中华预防医学会儿童保健分会 北京医学会罕见病分会 深圳罕见病代谢组学精准医学工程研究中心 中华医学会医学遗传学分会生化与代谢学组 中国医师协会医学遗传医师分会临床生化遗传专业委员会 陈永兴 梁黎黎[3] 王晓建 张宏武[5] 邱文娟[3] 张尧[5] 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

机构地区：[1]不详 [2]河南省儿童医院 [3]上海交通大学医学院附属新华医院 [4]中国医学科学院阜外医院 [5]北京大学第一医院

出　　处：《中国实用儿科杂志》2022年第9期641-649,共9页Chinese Journal of Practical Pediatrics

基　　金：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)。

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。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.

关 键 词：糖原累积病Ia型 肝病 低血糖 共识 

分 类 号：R72[医药卫生—儿科]