Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).
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DOI：
10.1371/journal.pone.0079933
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology
中科院分区：
文献类型：
--
作者：
Pinelli M;Acquaviva F;Barbetti F;Caredda E;Cocozza S;Delvecchio M;Mozzillo E;Pirozzi D;Prisco F;Rabbone I;Sacchetti L;Tinto N;Toni S;Zucchini S;Iafusco D;Italian Study Group on Diabetes of the Italian Society of Pediatric Endocrinology and Diabetology
MODY2是意大利最流行的单基因糖尿病形式，估计患病率约为0.5%-1.5%。MODY2可能与其他形式的糖尿病无法区分，然而，它的识别会影响患者的生活质量和医疗资源。不幸的是，DNA直接测序作为诊断试验并不容易获得，也不昂贵。此外，目前的指导方针旨在确定何时应该进行检测，事实证明，这种检测的发现率很低。这项研究的目的是提出一种可靠且易于使用的工具来识别MODY2基因测试的候选患者。我们设计并验证了诊断流程图，试图提高检测率并增加正确请求的测试数量。该流程图被称为7-IF，由7个二进制“是或否”问题组成，其明确的输出是是否测试的指示。我们测试了7-IF，以评估其临床实用性，并与单独的临床怀疑进行比较。在一项为期两年的前瞻性研究(921名糖尿病儿童)中，7-IF的精确度约为76%。使用回顾性数据，7-IF显示出识别MODY2患者的准确率约为80%，而临床怀疑的准确率为40%。另一方面，尽管丢失MODY2患者的数量相对较多，但7-IF不建议对90%的非MODY2患者进行测试，这表明广泛应用该方法可能1)帮助经验较少的临床医生怀疑MODY2患者，2)减少不必要的测试数量。有了7-IF，临床医生可以有信心地识别潜在的MODY2病例，并建议进行分子测试，而不必担心浪费时间和金钱。一项Qaly型分析估计，患者的生活质量提高，医疗保健系统每年节省约900万欧元。
MODY2 is the most prevalent monogenic form of diabetes in Italy with an estimated prevalence of about 0.5–1.5%. MODY2 is potentially indistinguishable from other forms of diabetes, however, its identification impacts on patients' quality of life and healthcare resources. Unfortunately, DNA direct sequencing as diagnostic test is not readily accessible and expensive. In addition current guidelines, aiming to establish when the test should be performed, proved a poor detection rate. Aim of this study is to propose a reliable and easy-to-use tool to identify candidate patients for MODY2 genetic testing. We designed and validated a diagnostic flowchart in the attempt to improve the detection rate and to increase the number of properly requested tests. The flowchart, called 7-iF, consists of 7 binary “yes or no” questions and its unequivocal output is an indication for whether testing or not. We tested the 7-iF to estimate its clinical utility in comparison to the clinical suspicion alone. The 7-iF, in a prospective 2-year study (921 diabetic children) showed a precision of about the 76%. Using retrospective data, the 7-iF showed a precision in identifying MODY2 patients of about 80% compared to the 40% of the clinical suspicion. On the other hand, despite a relatively high number of missing MODY2 patients, the 7-iF would not suggest the test for 90% of the non-MODY2 patients, demonstrating that a wide application of this method might 1) help less experienced clinicians in suspecting MODY2 patients and 2) reducing the number of unnecessary tests. With the 7-iF, a clinician can feel confident of identifying a potential case of MODY2 and suggest the molecular test without fear of wasting time and money. A Qaly-type analysis estimated an increase in the patients' quality of life and savings for the health care system of about 9 million euros per year.
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