Constantin Andreea Teodora, Streata Ioana, Covăcescu Mirela Silvia, Riza Anca Lelia, Roșca Ioana, Delia Corina, Tudor Lucia Maria, Dorobanțu Ștefania, Dragoș Adina, Ristea Diana, Ioana Mihai, Gherghina Ioan
Pediatrics Department, National Institute for Mother and Child Health "Alessandrescu-Rusescu", 020395 Bucharest, Romania.
Pediatrics Department, Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", 020021 Bucharest, Romania.
Diagnostics (Basel). 2023 Jun 7;13(12):1988. doi: 10.3390/diagnostics13121988.
Familial hypercholesterolemia (FH) is a genetic disease marked by high levels of LDL-cholesterol. This condition has long-term clinical implications, such as cardiovascular events, that are evident during adult life. Here, we report on a single-center cross-sectional showcase study of genetic testing for FH in a Romanian pediatric group. Genetic testing for FH was performed on 20 Romanian pediatric patients, 10 boys and 10 girls, admitted with LDL-cholesterol levels over 130 mg/mL to the National Institute for Mother and Child Health "Alesssandrescu-Rusescu" in 2020. Genetic testing was performed using the Illumina TruSight Cardio panel. We identified pathogenic/likely pathogenic variants that could explain the phenotype in 5/20 cases. The involved genes were and . Clinical signs that suggest the diagnosis of FH are scarce for the pediatric patient, although it can be diagnosed early during childhood by lipid panel screening. Prevention could prove lifesaving for some of these patients.
家族性高胆固醇血症（FH）是一种以低密度脂蛋白胆固醇水平升高为特征的遗传性疾病。这种病症具有长期的临床影响，如心血管事件，在成年期较为明显。在此，我们报告一项针对罗马尼亚儿科群体进行的FH基因检测的单中心横断面展示研究。2020年，对罗马尼亚国家妇幼健康研究所“Alesssandrescu - Rusescu”收治的20名儿科患者（10名男孩和10名女孩）进行了FH基因检测，这些患者的低密度脂蛋白胆固醇水平超过130mg/mL。使用Illumina TruSight Cardio检测板进行基因检测。我们在20例病例中的5例中鉴定出了可解释该表型的致病/可能致病变异。涉及的基因是 和 。对于儿科患者而言，提示FH诊断的临床体征很少见，尽管通过血脂检测筛查可在儿童期早期进行诊断。预防措施对其中一些患者可能会挽救生命。
