Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis
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DOI：
10.1373/clinchem.2006.081166
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发表时间：
2007-05-01
影响因子：
9.3
通讯作者：
Lambert, Marie
中科院分区：
文献类型：
--
作者：
Debray, Francois-Guillaume;Mitchell, Grant A.;Lambert, Marie
背景资料：虽然血乳酸-丙酮酸（UP）摩尔比可用于区分丙酮酸脱氢酶缺乏症（PDH-D）和其他原因引起的先天性乳酸酸中毒（CLA），但其在区分这两种类型CLA方面的诊断准确性尚未得到正式评估。我们对1985年至2005年期间在三级儿科医院接受线粒体疾病随访的所有患者进行了回顾性研究。在推荐的临界点25附近，个体中位L：P比值在区分经酶证实的PDH-D患者（n = 11）和线粒体疾病但丙酮酸脱氢酶（PDH）活性正常的患者（非DH; n = 35）方面表现出较低的灵敏度和特异性（分别为77%和91%）。我们观察到在非PDH CLA中L：P比率与血乳酸之间存在强正相关，而在PDH-D CLA中这种相关性较弱。因此，基于中位L：P比值的患者分类显示在较高乳酸浓度下诊断准确性提高：对于乳酸< 2.5 mmol/L，ROC曲线下面积与0.5无统计学差异（P = 0.3），而对于乳酸> 2.5 mmol/L，其有统计学差异。在2.5至5.0 mmol/L乳酸类别中，最佳临界点18.4的灵敏度和特异性为93%（95% CI，77%-99%）和71%（95% CI，20%-96%）;乳酸> 5.0mmol/L时，最佳临界值为25.8，敏感性和特异性均为96%（95%CI，77%-99%）和100%（95%CI，59%-100%）。结论：在较高的乳酸浓度下，UP比率用于区分非PDH和PDH-D类型的CLA的有用性增加。(c)2007年美国临床化学协会。
Background: Although the blood lactate-to-pyruvate (UP) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally.Methods: We conducted a retrospective study of all patients followed for mitochondrial diseases between 1985 and 2005 in a tertiary care pediatric hospital.Results: At the recommended cut point of similar to 25, individual median L:P ratio demonstrated low sensitivity and specificity (77% and 91%, respectively) for differentiating between patients with enzymatically proven PDH-D (n = 11) and those with mitochondrial disease but normal pyruvate dehydrogenase (PDH) activity (non-DH; n = 35). We observed a strong positive association between L:P ratio and blood lactate in non-PDH CLA, whereas this association was weak in PDH-D CLA. Consequently, patient classification based on median L:P ratio showed improved diagnostic accuracy at higher lactate concentrations: for lactate < 2.5 mmol/L the area under the ROC curve was not statistically different from 0.5 (P = 0.3), whereas it was statistically different for lactate > 2.5 mmol/L. In the 2.5 to 5.0 mmol/L lactate category, the sensitivity and specificity at an optimal cut point of 18.4 were 93% (95% CI, 77%-99%) and 71% (95% CI, 20%-96%), respectively; for lactate > 5.0 mmol/L, with an optimal cut point of 25.8, sensitivity and specificity were 96% (95% CI, 77%-99%) and 100% (95% CI, 59%-100%), respectively.Conclusion: Usefulness of the UP ratio for differentiating non-PDH and PDH-D types of CLA increases at higher lactate concentrations. (c) 2007 American Association for Clinical Chemistry.