Diagnostic criteria for respiratory chain disorders in adults and children
Diagnostic criteria for respiratory chain disorders in adults and children
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DOI：
10.1212/01.wnl.0000033795.17156.00
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发表时间：
2002-11-12
期刊：
影响因子：
9.9
通讯作者：
Thorburn, DR
中科院分区：
文献类型：
--
作者：
Bernier, FP;Boneh, A;Thorburn, DR
背景：呼吸链（RC）疾病具有临床、生化和分子异质性。缺乏标准化的诊断标准给评价诊断方法带来困难。目的：评估拟议的成人RC诊断标准，将患者分为“确定”、“可能”或“可能”三类。方法：作者将成人RC诊断标准回顾性应用于146例疑似RC疾病的连续儿童。从医院、遗传学和实验室记录中收集数据，并将成人标准预测的诊断与先前分配的评估进行比较。结果：作者确定了应用成人标准的三个主要困难：缺乏儿科特异性标准；难以将连续数据划分为有限的主要和次要标准；缺乏临床特征或酶检测的可加性。因此，他们修改了成人标准，以考虑儿科临床和组织学特征，以及更敏感的RC酶编码和功能研究。对患者数据的重新分析结果显示，99%的患者的诊断确定性与作者中心先前指定的诊断确定性一致。结论：这些一般诊断标准似乎提高了成人标准的敏感性。它们需要在前瞻性临床和流行病学研究中进一步评估。
Background: Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating diagnostic methodologies. Objective: To assess proposed adult RC diagnostic criteria that classify patients into "definite," "probable," or "possible" categories. Methods: The authors applied the adult RC diagnostic criteria retrospectively to 146 consecutive children referred for investigation of a suspected RC disorder. Data were collected from hospital, genetics, and laboratory records, and the diagnoses predicted by the adult criteria were compared with the previously assigned assessments. Results: The authors identified three major difficulties in applying the adult criteria: lack of pediatric-specific criteria; difficulty in segregating continuous data into circumscribed major and minor criteria; and lack of additivity of clinical features or enzyme tests. They therefore modified the adult criteria to allow for pediatric clinical and histologic features and for more sensitive coding of RC enzyme and functional studies. Reanalysis of the patients' data resulted in congruence between the diagnostic certainty previously assigned by the authors' center and that defined by the new general RC diagnostic criteria in 99% of patients. Conclusions: These general diagnostic criteria appear to improve the sensitivity of the adult criteria. They need further assessment in prospective clinical and epidemiologic studies.