儿童糖原累积病Ⅱ型诊断及治疗中国专家共识  

Chinese experts consensus on diagnosis and treatment of glycogen storage disease type Ⅱ in children

作　　者：中华医学会儿科学分会内分泌遗传代谢学组 中华医学会医学遗传学分会 中华医学会儿科学分会罕见病学组 北京医学会医学遗传学分会 北京罕见病诊疗与保障学会 中国罕见病联盟 邱正庆[2] 罗小平[3] 傅君芬[4] The Subspecialty Group of Endocrinologic,Hereditary and Metabolic Diseases,the Society of Pediatrics,Chinese Medical Association;the Society of Medical Genetics,Chinese Medical Association;the Subspecialty Group of Rare Diseases,the Society of Pediatrics,Chinese Medical Association;Medical Genetics Branch of Beijing Medical Association;Beijing Rare Disease Diagnosis and Protection Association;China Alliance of Rare Diseases;Qiu Zhengqing;Luo Xiaoping;Fu Junfen(不详;Department of Pediatrics,Chinese Academy of Medical Science,Peking Union Medical College,Peking Union Medical College Hospital,Beijing 100730,China;Department of Pediatrics,Tongji Hospital of Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Department of Endocrinology,the Chilren's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310051,China)

机构地区：[1]不详 [2]中国医学科学院北京协和医学院北京协和医院儿科,100730 [3]华中科技大学同济医学院附属同济医院儿科学系,武汉430030 [4]浙江大学医学院附属儿童医院内分泌科国家儿童健康与疾病临床研究中心,杭州310051

出　　处：《中华儿科杂志》2021年第6期439-445,共7页Chinese Journal of Pediatrics

基　　金：国家重点研发计划(2016YFC0905102,2016YFC0901500,2018YFC1002400,2016YFC1305300)。

摘　　要：糖原累积病Ⅱ型是目前所知唯一属于溶酶体贮积症的糖原累积病。糖原累积病Ⅱ型患儿发病年龄不同,症状复杂,早诊断早治疗才能更好地控制病情。为了规范儿童糖原累积病Ⅱ型的诊断和治疗,中华医学会儿科学分会内分泌遗传代谢学组组织相关专家在2013版专家共识的基础上,结合近10年来国内外有关儿童糖原累积病Ⅱ型的最新诊治研究进展及相关中国专家的临床经验总结,制定了适合中国国情的儿童糖原累积病Ⅱ型诊治专家共识。

关 键 词：中华医学会 发病年龄 糖原累积病 溶酶体贮积症 专家共识 儿科学分会 诊治研究 临床经验总结 

分 类 号：R725.8[医药卫生—儿科]