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COVID-19 大流行对遗传代谢疾病诊断和管理的影响:全球视角。

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.

机构信息

Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt; Inherited metabolic disease unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt.

Unidad de Enfermedades Metabolicas, Hospital Ramon y Cajal, Madrid, Spain.

出版信息

Mol Genet Metab. 2020 Nov;131(3):285-288. doi: 10.1016/j.ymgme.2020.09.004. Epub 2020 Sep 25.

DOI:10.1016/j.ymgme.2020.09.004
PMID:33004274
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7518833/
Abstract

Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.

摘要

目前缺乏关于 COVID-19 对全球先天性代谢缺陷(IEM)患者的诊断和治疗影响的定量评估。我们从欧洲、亚洲和非洲的 16 个专门治疗 IEM 患者的医疗中心收集了相关数据。与 2019 年同期相比,2020 年 3 月 1 日至 5 月 31 日期间,报告的 IEM 相关服务的中位数下降了 60-80%,这对这一弱势群体患者的管理和护理产生了深远的影响。需要更具代表性的数据以及在这种特殊情况下管理 IEM 疾病的结果数据和指南。

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