University of Cukurova, Faculty of Medicine, Department of Urology, Adana, Turkey.
Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) & Medical Genetics Department of Medical Faculty, Turkey.
J Pediatr Urol. 2021 Aug;17(4):476.e1-476.e7. doi: 10.1016/j.jpurol.2021.03.028. Epub 2021 Apr 1.
Urinary tract stone disease (UTSD) is seen with increasing frequency in children, and genetic, metabolic and environmental factors are known to play a role in its etiology. Since it is a genetically heterogeneous disease, we investigated the multigene panel and metabolic evaluation together.
Forty-eight pediatric patients that underwent surgery for UTSD and were followed up in the Department of Urology of Çukurova University Faculty of Medicine between March 2016 and July 2019 were included in the study. Children with known metabolic diseases were excluded.A detailed history was taken from each patient, and presence of a positive family history was questioned. Blood and urine samples were obtained, and metabolic evaluation was performed. In addition, 2 cc peripheral blood samples were collected from selected patients to perform DNA isolation at Çukurova University Adana Genetic Diseases Diagnosis and Treatment Center. The analysis of the obtained sequence data was performed.
Of the 48 children included in the study, 29 (60.4%) were male and 19 (39.6%) were female. The mean age was 60 ± 50 (12-192) months. It was observed that 28 (58.3%) of the patients included in the study had a positive family history.As a result of the next-generation sequencing studies conducted with the multigene panel, a total of 21 clinically significant variants in eight different genes were identified with the bioinformatics analysis on the data on which quality control was performed. The weighted distribution of the 21 variants according to the genes was as follows: five variants (23.8%) in the SLC3A1 gene, four (19%) in SLC6A20, and three (14.3%) in SLC7A9 and SLC26A1. The clinical reporting of the disease etiology and/or variants with prognostic significance determined as a result of the performed analyses was completed by field experts in accordance with international standards. The visuals of the detected variants are presented in Summary figure.
In pediatric cases with UTSD, it is important to determine the underlying metabolic and genetic risk factors in order to prevent recurrence and apply the most effective treatment.
尿路结石病（UTSD）在儿童中发病率越来越高，已知遗传、代谢和环境因素在其发病机制中起作用。由于这是一种遗传异质性疾病，我们一起研究了多基因面板和代谢评估。
2016 年 3 月至 2019 年 7 月，我们将在库鲁瓦大学医学院泌尿科接受 UTSD 手术并接受随访的 48 例儿科患者纳入研究。排除已知代谢疾病的儿童。从每位患者那里获取详细病史，并询问是否存在阳性家族史。采集血、尿样本进行代谢评估。此外，从选定的患者中采集 2 cc 外周血样，在库鲁瓦大学阿达纳遗传疾病诊断和治疗中心进行 DNA 分离。对获得的序列数据进行分析。
在纳入研究的 48 名儿童中，29 名（60.4%）为男性，19 名（39.6%）为女性。平均年龄为 60±50（12-192）个月。观察到研究中纳入的 28 名（58.3%）患者有阳性家族史。通过对多基因面板进行下一代测序研究，通过对进行质量控制的数据进行生物信息学分析，共发现 8 个不同基因中的 21 个临床显著变异。根据基因，21 个变异的加权分布如下：SLC3A1 基因 5 个变异（23.8%），SLC6A20 4 个变异（19%），SLC7A9 和 SLC26A1 各 3 个变异（14.3%）。根据国际标准，由领域专家完成对所确定的疾病病因和/或具有预后意义的变体的临床报告。检测到的变异的可视化图以摘要图的形式呈现。
在患有 UTSD 的儿科病例中，确定潜在的代谢和遗传危险因素对于预防复发和应用最有效的治疗方法非常重要。
