Alharbi Sultan A, Alshenqiti Abduljabbar M, Asiri Ali H, Alqarni Musaed A, Alqahtani Saad A
Department of Pediatrics, Prince Mohammed Bin Abdulaziz Hospital, Madinah, SAU.
Department of Pediatrics, Khamis Mushait Maternity and Children Hospital, Khamis Mushait, SAU.
Cureus. 2023 Aug 31;15(8):e44490. doi: 10.7759/cureus.44490. eCollection 2023 Aug.
Pediatric renal diseases vary widely and are linked to high morbidity and mortality; hence, early diagnosis is vital. Presently, genetic testing is being incorporated into the standard of care for children and their families with kidney disease, primarily as a diagnostic tool. In the present review, we aim to collect all potential evidence from relevant studies that reported the role of genetic testing in pediatric renal disease diagnostic, prognostic, and social implications. We have conducted both electronic and manual searches within PubMed, the Cochrane Library, Web of Science, and Scopus to find relevant studies. Studies from the years 2013-2023 were included. Case reports with limited sample sizes and no descriptive statistics, along with review papers and meta-analyses, were excluded from this review. Quality assessment for all included studies was performed. The pooled diagnostic yields were calculated using the common effect and random effect models utilizing the R program (R Foundation for Statistical Computing, Vienna, Austria). The pooled result for the diagnostic yield as per the common effect model is a pooled proportion of 0.42 (42%) 95% confidence interval (CI): [0.39,0.44], while with the random effects model the pooled proportion is 0.43 (43%) 95% CI: [0.31,0.57]. The diagnostic yield for the included studies ranged from 78.10% to 16.8%. The spectrum of kidney diseases included nephrolithiasis/nephrocalcinosis, glomerular diseases, cystic kidney disease, ciliopathies, tubulopathies, chronic kidney disease, and congenital anomalies of the kidneys and urinary tracts (CAKUT), while hematuria and proteinuria were reported by two studies and autosomal recessive and autosomal dominant idiopathic kidney disease was reported by only one study. Genetic testing validates clinical diagnosis and aids in tailoring management strategies; hence, a more precise treatment plan is developed and unnecessary investigations are avoided, which is crucial in the case of children during routine nephrology clinic visits. Genetic counselling is of the utmost importance, so all ethical and social concerns related to genetic testing are addressed in addition to patient satisfaction.
儿科肾脏疾病种类繁多，且与高发病率和死亡率相关；因此，早期诊断至关重要。目前，基因检测正被纳入患有肾脏疾病的儿童及其家庭的医疗标准中，主要作为一种诊断工具。在本综述中，我们旨在收集相关研究中的所有潜在证据，这些研究报告了基因检测在儿科肾脏疾病诊断、预后及社会影响方面的作用。我们在PubMed、Cochrane图书馆、科学网和Scopus中进行了电子检索和人工检索，以查找相关研究。纳入了2013年至2023年的研究。样本量有限且无描述性统计的病例报告，以及综述论文和荟萃分析均被排除在本综述之外。对所有纳入研究进行了质量评估。使用R程序（奥地利维也纳的R统计计算基金会）的固定效应模型和随机效应模型计算合并诊断率。固定效应模型下诊断率的合并结果是合并比例为0.42（42%），95%置信区间（CI）：[0.39,0.44]，而随机效应模型下合并比例为0.43（43%），95%CI：[0.31,0.57]。纳入研究的诊断率范围为78.10%至16.8%。肾脏疾病谱包括肾结石/肾钙质沉着症、肾小球疾病、囊性肾病、纤毛病、肾小管病、慢性肾脏病以及肾脏和尿路先天性异常（CAKUT），两项研究报告了血尿和蛋白尿，仅有一项研究报告了常染色体隐性和常染色体显性特发性肾病。基因检测可验证临床诊断并有助于制定个性化管理策略；因此，可制定更精确的治疗方案并避免不必要的检查，这在儿童常规肾病门诊就诊时至关重要。遗传咨询至关重要，因此除了患者满意度外，还应解决与基因检测相关的所有伦理和社会问题。
