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急诊科成年患者先天性代谢缺陷的诊断与管理

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department.

作者信息

Solares Isabel, Heredia-Mena Carlos, Castelbón Francisco Javier, Jericó Daniel, Córdoba Karol Marcela, Fontanellas Antonio, Enríquez de Salamanca Rafael, Morales-Conejo Montserrat

机构信息

Department of Internal Medicine, University Hospital, 12 de Octubre, Av. de Córdoba, s/n, 28041 Madrid, Spain.

National Reference Center for Congenital Errors of Metabolism (CSUR) and European Reference Center for Inherited Metabolic Disease (MetabERN), University Hospital, 12 de Octubre, 28041 Madrid, Spain.

出版信息

Diagnostics (Basel). 2021 Nov 19;11(11):2148. doi: 10.3390/diagnostics11112148.

DOI:10.3390/diagnostics11112148
PMID:34829496
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8621113/
Abstract

Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.

摘要

先天性代谢缺陷（IEM）是一组以代谢途径改变为特征的重要病症。针对儿科人群的IEM诊断和管理有众多指南，但针对成人的却没有。鉴于这类病症在成人中的发病率不断上升，除儿科医生外，其他临床医生也应了解它们，并学会识别其特征性表现。早期识别并实施适当的治疗方法将改善许多此类患者的临床结局。本综述介绍了何时以及如何对代谢紊乱进行调查，目的是鼓励医生不要忽视可治疗的疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/ebbd4bc6af4c/diagnostics-11-02148-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/d519442ab98c/diagnostics-11-02148-g001.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/073e4244a54e/diagnostics-11-02148-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/ebbd4bc6af4c/diagnostics-11-02148-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/d519442ab98c/diagnostics-11-02148-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/f37c425839bd/diagnostics-11-02148-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/3f1a05291d3d/diagnostics-11-02148-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/073e4244a54e/diagnostics-11-02148-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9dce/8621113/ebbd4bc6af4c/diagnostics-11-02148-g005.jpg

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