A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
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DOI：
10.1016/j.ymgme.2008.09.008
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发表时间：
2009-03
影响因子：
3.8
通讯作者：
Feigenbaum, Annette
中科院分区：
文献类型：
--
作者：
Arnold, Georgianne L.;Van Hove, Johan;Freedenberg, Debra;Strauss, Arnold;Longo, Nicola;Burton, Barbara;Garganta, Cheryl;Ficicioglu, Can;Cederbaum, Stephen;Harding, Cary;Boles, Richard G.;Matern, Dietrich;Chakraborty, Pranesh;Feigenbaum, Annette
关键词：
极长链酰基辅酶A脱氢酶（VLCAD）缺乏症是一种长链脂肪氧化障碍，可在生命的最初几个月至几年内表现为心肌病或禁食不耐受，或在儿童后期至成年期表现为肌病。扩大新生儿筛查已确定这种疾病的发病率相对较高（1：31，500），但缺乏循证结局数据来指导临床实践方案的制定。该共识方案旨在帮助临床医生诊断和管理筛查阳性新生儿的VLCAD缺陷，直到循证指南可用。牛津循证医学中心系统用于对文献综述进行评分，并创建从A（随机临床试验的证据等级）到D（专家意见）的建议。德尔菲被用作共识工具。由14名专家（包括临床医生、诊断实验室主任和研究人员）组成的小组完成了三轮调查问题，并进行了面对面的会议。小组成员审查了对筛查阳性婴儿的初步评估、诊断检测和对确诊患者的管理。在这三个领域都提出了C级和D级共识建议。专家组没有就所有问题达成共识，特别是在通过新生儿筛查诊断的无症状婴儿的饮食管理方面。
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of oxidation of long chain fat, and can present as cardiomyopathy or fasting intolerance in the first months to years of life, or as myopathy in later childhood to adulthood. Expanded newborn screening has identified a relatively high incidence of this disorder (1:31,500), but there is a dearth of evidence-based outcomes data to guide the development of clinical practice protocols. This consensus protocol is intended to assist clinicians in the diagnosis and management of screen-positive newborns for VLCAD deficiency until evidence-based guidelines are available. 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). Delphi was used as the consensus tool. A panel of 14 experts (including clinicians, diagnostic laboratory directors and researchers) completed three rounds of survey questions and had a face-to-face meeting. Panelists reviewed the initial evaluation of the screen-positive infant, diagnostic testing and management of diagnosed patients. Grade C and D consensus recommendations were made in each of these three areas. The panel did not reach consensus on all issues, particularly in the dietary management of asymptomatic infants diagnosed by newborn screening.
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