Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Clin Genet. 2021 Dec;100(6):766-770. doi: 10.1111/cge.14061. Epub 2021 Sep 19.
Neurological symptoms are frequent and often a leading feature of childhood-onset mitochondrial disorders (MD) but the exact incidence of MD in unselected neuropediatric patients is unknown. Their early detection is desirable due to a potentially rapid clinical decline and the availability of management options. In 491 children with neurological symptoms, a comprehensive diagnostic work-up including exome sequencing was performed. The success rate in terms of a molecular genetic diagnosis within our cohort was 51%. Disease-causing variants in a mitochondria-associated gene were detected in 12% of solved cases. In order to facilitate the clinical identification of MDs within neuropediatric cohorts, we have created an easy-to-use bedside-tool, the MDC-NP. In our cohort, the MDC-NP predicted disease conditions related to MDs with a sensitivity of 0.83, and a specificity of 0.96.
神经系统症状在儿童起病的线粒体疾病（MD）中很常见，且常为其首发表现，但在未经选择的神经儿科患者中，MD 的确切发病率尚不清楚。由于 MD 可能迅速进展，且有治疗选择，因此早期发现 MD 是很有必要的。我们对 491 名有神经系统症状的儿童进行了全面的诊断性检查，包括外显子组测序。在我们的队列中，分子遗传学诊断的成功率为 51%。在已明确诊断的病例中，有 12%检测到了与线粒体相关的基因中的致病性变异。为了便于在神经儿科队列中识别 MD，我们创建了一个易于使用的床边工具，即 MDC-NP。在我们的队列中，MDC-NP 预测与 MD 相关的疾病状态的敏感性为 0.83，特异性为 0.96。
