摘要
Alström综合征是一种由ALMS1基因突变导致的罕见多系统遗传病,临床上诊断和治疗均十分困难。2020年,由多国参与制定的《Alström综合征临床管理指南》在Orphanet Journal of Rare Diseases杂志发布。该指南对截至2019年10月检查到的45年文献证据进行严格审查后,提出了Alström综合征的临床管理建议。现简要介绍2020年欧洲Alström综合征指南内容,并予适当解读,以供参考。
Alström syndrome is a rare multisystem genetic disease caused by mutations in the ALMS1 gene.Both of its clinical diagnosis and treatment are very difficult.In 2020,the Consensus Clinical Management Guidelines for Alström Syndrome,developed with the participation of many countries,was published in the Orphanet Journal of Rare Diseases.A systematic literature review on Alström syndrome of the last 45 years until October 2019 was carried out and then the clinical management guideline for Alström syndrome was proposed.In this report,the contents of the 2020 European guideline for Alström syndrome would be introduced briefly with appropriate interpretation in order to provide reference.
作者
张倩文
丁宇
常国营
傅立军
刘红
王剑
焦宇
王秀敏
Zhang Qianwen;Ding Yu;Chang Guoying;Fu Lijun;Liu Hong;Wang Jian;Jiao Yu;Wang Xiumin(Department of Endocrinology and Metabolism,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Center for Brain Science,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Cardiology,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Ophthalmology,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Medical Genetics and Molecular Diagnostic Laboratory,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Otorhinolaryngology and Oral and Maxillofacial Surgery,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2021年第13期961-965,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
国家自然科学基金(81770380,81974029)
国家自然科学基金青年基金(81900722)
上海市儿童罕见病临床研究中心(20MC1920400)
上海市浦东新区科技发展基金(PKJ 2018-Y46)。
