Metabolic encephalopathies in children: A pragmatic diagnostic approach based on literature analysis.

IF 2.1 4区 医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Dariusz Rokicki
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引用次数: 0

Abstract

Inborn errors of metabolism (IEM) in the general population are rare diseases. However, from the perspective of general pediatrics and pediatric intensive care units (PICUs), they are becoming a significant challenge both diagnostically and therapeutically. Clinically, there is a useful division of IEMs with neurological manifestations into 2 categories: acute and progressive encephalopathies. The extent of individual IEMs in these 2 groups varies, requiring different diagnostic strategies. Despite progress in development of diagnostic tools in IEM, initial diagnosis is made on the basis of basic laboratory tests, neuroradiological findings and metabolic screening. In settings of shortage of diagnostic resources and under time pressure, rational decisions should be made based on available clinical data. The text discusses diagnostic aspects of IEM presenting as metabolic encephalopathies, highlighting their significance in the context of general pediatric care and intensive care units (ICUs), and the challenges associated with diagnosis. It should be noted that the paper does not include a discussion of epileptic encephalopathies of IEM etiology, although some cases of metabolic encephalopathies may also present initially as epileptic encephalopathy.

儿童代谢性脑病:基于文献分析的实用诊断方法。
先天性代谢异常(IEM)在普通人群中属于罕见病。然而,从普通儿科和儿科重症监护室(PICU)的角度来看,它们正成为诊断和治疗方面的重大挑战。在临床上,有神经系统表现的 IEM 可分为两类:急性和进行性脑病。这两类 IEM 的程度各不相同,因此需要不同的诊断策略。尽管在 IEM 诊断工具的开发方面取得了进展,但初步诊断仍以基本实验室检测、神经放射学检查结果和代谢筛查为基础。在诊断资源短缺和时间紧迫的情况下,应根据现有的临床数据做出合理的决定。文中讨论了表现为代谢性脑病的 IEM 的诊断问题,强调了其在普通儿科护理和重症监护病房(ICU)中的重要性,以及与诊断相关的挑战。需要注意的是,本文不包括对 IEM 病因的癫痫性脑病的讨论,尽管某些代谢性脑病病例最初也可能表现为癫痫性脑病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Advances in Clinical and Experimental Medicine
Advances in Clinical and Experimental Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.70
自引率
4.80%
发文量
153
审稿时长
6-12 weeks
期刊介绍: Advances in Clinical and Experimental Medicine has been published by the Wroclaw Medical University since 1992. Establishing the medical journal was the idea of Prof. Bogumił Halawa, Chair of the Department of Cardiology, and was fully supported by the Rector of Wroclaw Medical University, Prof. Zbigniew Knapik. Prof. Halawa was also the first editor-in-chief, between 1992-1997. The journal, then entitled "Postępy Medycyny Klinicznej i Doświadczalnej", appeared quarterly. Prof. Leszek Paradowski was editor-in-chief from 1997-1999. In 1998 he initiated alterations in the profile and cover design of the journal which were accepted by the Editorial Board. The title was changed to Advances in Clinical and Experimental Medicine. Articles in English were welcomed. A number of outstanding representatives of medical science from Poland and abroad were invited to participate in the newly established International Editorial Staff. Prof. Antonina Harłozińska-Szmyrka was editor-in-chief in years 2000-2005, in years 2006-2007 once again prof. Leszek Paradowski and prof. Maria Podolak-Dawidziak was editor-in-chief in years 2008-2016. Since 2017 the editor-in chief is prof. Maciej Bagłaj. Since July 2005, original papers have been published only in English. Case reports are no longer accepted. The manuscripts are reviewed by two independent reviewers and a statistical reviewer, and English texts are proofread by a native speaker. The journal has been indexed in several databases: Scopus, Ulrich’sTM International Periodicals Directory, Index Copernicus and since 2007 in Thomson Reuters databases: Science Citation Index Expanded i Journal Citation Reports/Science Edition. In 2010 the journal obtained Impact Factor which is now 1.179 pts. Articles published in the journal are worth 15 points among Polish journals according to the Polish Committee for Scientific Research and 169.43 points according to the Index Copernicus. Since November 7, 2012, Advances in Clinical and Experimental Medicine has been indexed and included in National Library of Medicine’s MEDLINE database. English abstracts printed in the journal are included and searchable using PubMed http://www.ncbi.nlm.nih.gov/pubmed.
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