A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency
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DOI：
10.1016/j.ymgme.2007.11.002
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发表时间：
2008-04-01
影响因子：
3.8
通讯作者：
Longo, Nicola
中科院分区：
文献类型：
--
作者：
Arnold, Georgianne L.;Koeberl, Dwight D.;Longo, Nicola
3-MCC缺乏症是扩大新生儿筛查中发现的最常见的先天代谢缺陷之一(1：36,000名新生儿)。然而，这种疾病的诊断和治疗缺乏循证指南。使用传统的德尔菲法，召集了一个由15名先天代谢错误专家组成的小组，为诊断和处理3-MCC筛查阳性婴儿及其母亲制定了基于共识的临床实践指南。使用牛津循证医学中心系统对文献综述进行评分，并创建从A(随机临床试验的证据水平)到D(专家意见)的建议。小组成员回顾了筛查阳性婴儿-母亲二联体的初始评估、诊断指南和诊断患者的处理。在这三个领域中的每一个领域都提出了D级协商一致建议。该小组并未在所有问题上达成共识。这一共识方案旨在帮助临床医生诊断和处理筛查阳性新生儿的3-MCC缺乏症，并鼓励制定循证指南。(C)2007 Elsevier Inc.保留所有权利。
3-MCC deficiency is among the most common inborn errors of metabolism identified on expanded newborn screening (1:36,000 births). However, evidence-based guidelines for diagnosis and management of this disorder are lacking. Using the traditional Delphi method, a panel of 15 experts in inborn errors of metabolism was convened to develop consensus-based clinical practice guidelines for the diagnosis and management of 3-MCC screen-positive infants and their mothers. The Oxford Centre for Evidence-based Medicine system was used to grade the literature review and create recommendations graded from A (evidence level of randomized clinical trials) to D (expert opinion).Panelists reviewed the initial evaluation of the screen-positive infant-mother dyad, diagnostic guidelines, and management of diagnosed patients. Grade D consensus recommendations were made in each of these three areas. The panel did not reach consensus on all issues. This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for 3-MCC deficiency and to encourage the development of evidence-based guidelines. (C) 2007 Elsevier Inc. All rights reserved.