Comparison of different algorithms in laboratory diagnosis of alpha1-antitrypsin deficiency
Comparison of different algorithms in laboratory diagnosis of alpha1-antitrypsin deficiency
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DOI：
10.1515/cclm-2020-1881
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发表时间：
2021-01-01
影响因子：
6.8
通讯作者：
Ferrarotti, Ilaria
中科院分区：
文献类型：
--
作者：
Balderacchi, Alice M.;Barzon, Valentina;Ferrarotti, Ilaria
目的：α 1-抗胰蛋白酶缺乏症（AATD）是一种遗传性疾病，使个体患肺和肝脏疾病的风险增加。尽管AATD是高加索人群中最广泛的遗传性疾病之一，但只有少数受影响的个体被检测到。虽然方法已被验证用于AATD测试，但没有普遍建立的算法用于检测和诊断该疾病。为了比较AATD诊断的不同方法，我们对AATD诊断算法的文献进行了系统的回顾。方法：使用每种选定的算法回顾性研究了我们实验室处理的5，352份样本的完整生化和分子分析。结果：当将诊断算法应用于相同的样本时，假阴性的频率从1.94%变化到12.9%，每种算法的真阴性频率为62.91%，真阳性频率范围为24.19%至35.15%。因此，我们强调了阴性预测值之间的一些差异，范围为0.83至0.97。因此，每个算法的灵敏度范围在0.61和0.95之间。我们还假设1.108 g/L的最佳AAT截止值，在没有炎症状态，这表明可能存在的遗传AATD.Conclusions：诊断算法的选择有显着影响AATD的正确诊断，这是必要的适当的治疗和医疗护理。本论文揭示的相当多的可能的假阴性诊断也应该警告临床医生临床疑似AATD患者的阴性结果。
Objectives: Alpha1-antitrypsin deficiency (AATD) is an inherited condition that predisposes individuals to an increased risk of developing lung and liver disease. Even though AATD is one of the most widespread inherited diseases in Caucasian populations, only a minority of affected individuals has been detected. Whereas methods have been validated for AATD testing, there is no universally-established algorithm for the detection and diagnosis of the disorder. In order to compare different methods for diagnosing AATD, we carried out a systematic review of the literature on AATD diagnostic algorithms.Methods: Complete biochemical and molecular analyses of 5,352 samples processed in our laboratory were retrospectively studied using each of the selected algorithms.Results: When applying the diagnostic algorithms to the same samples, the frequency of False Negatives varied from 1.94 to 12.9%, the frequency of True Negatives was 62.91% for each algorithm and the frequency of True Positives ranged from 24.19 to 35.15%. We, therefore, highlighted some differences among Negative Predictive Values, ranging from 0.83 to 0.97. Accordingly, the sensitivity of each algorithm ranged between 0.61 and 0.95. We also postulated 1.108 g/L as optimal AAT cut-off value, in absence of inflammatory status, which points to the possible presence of genetic AATD.Conclusions: The choice of the diagnostic algorithm has a significant impact on the correct diagnosis of AATD, which is essential for appropriate treatment and medical care. The fairly large number of possible false negative diagnoses revealed by the present paper should also warn clinicians of negative results in patients with clinically-suspected AATD.