Mitochondrial disorders - A proposal for consensus diagnostic criteria in infants and children
Mitochondrial disorders - A proposal for consensus diagnostic criteria in infants and children
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DOI：
10.1212/01.wnl.0000031795.91814.d8
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发表时间：
2002-11-12
期刊：
影响因子：
9.9
通讯作者：
Smeitink, JAM
中科院分区：
文献类型：
--
作者：
Wolf, NI;Smeitink, JAM
背景：1996 年发布了成人呼吸链疾病的诊断标准。最近还提出了修改儿童标准。目的：促进儿童呼吸链疾病的诊断并使其标准化。方法：已经制定了一种新的分类，即线粒体疾病标准（MDC），用于诊断婴儿和儿童呼吸链疾病。它考虑了骨骼肌的临床、代谢、成像和组织病理学特征与生化研究。该标准适用于 30 名儿童。结果：修改后的成人标准和 MDC 给出了相似的结果，有 17 名患者患有明确的呼吸链疾病。使用最初的成人标准，没有患者达到这一类别。结论：所提出的线粒体疾病标准分类可以更精确地定义临床和代谢项目以及肌肉生化研究的独立评分，然后再结合所有发现以确定整体诊断的确定性。
Background: In 1996 diagnostic criteria were published for adults with respiratory chain disorders. Modified criteria for children were also recently proposed. Objective: To facilitate and standardize diagnosis of respiratory chain disorders in children. Methods: A new classification has been developed, the Mitochondrial Disease Criteria (MDC), for the diagnosis of respiratory chain disorders in infants and children. It considers clinical, metabolic, imaging, and histopathologic features vs biochemical investigations of skeletal muscle. The criteria were applied to a group of 30 children. Results: The modified adult criteria and the MDC gave similar results, with 17 patients having a definite respiratory chain disorder. No patients reached this category using the original adult criteria. Conclusions: The proposed Mitochondrial Disease Criteria classification allows more precise definition of clinical and metabolic items and the independent scoring of muscle biochemical investigations before combining all findings to determine the overall diagnostic certainty.