As genetic and genomic testing increasingly integrates into the practice of nephrology, our understanding of the basis of many kidney disorders has exponentially increased. Given this, we recently initiated a Renal Genetics Clinic (RGC) at our large, urban childrens hospital for patients with either a personal or strong family history of renal disorders. Genetic testing was performed in Clinical Laboratory Improvement Amendments (CLIA) certified laboratories using single gene testing, multi-gene panels, chromosomal microarray (CMA), or exome sequencing (ES). A total of 192 patients (185 probands) were evaluated in this clinic, with cystic kidney disease (49/192) being the most common reason for referral followed by Congenital Anomalies of the Kidney and Urinary Tract (CAKUT: 41/192) and hematuria (38/192). Genetic testing was performed for 153 probands with an overall diagnostic yield of 75/153 (49%). In the patients who reached a molecular diagnosis, 13/75 (17.3%), medical or surgical treatment of the patients were impacted, and in 12/75 (16%), previous clinical diagnoses were changed to more accurate molecular diagnoses. Such testing provided an accurate diagnosis for children and in some cases led to further diagnosis in seemingly asymptomatic family members and changes to overall medical management. Molecular testing, as facilitated by such a specialized clinical setting, thus appears to have clear utility in the diagnosis and counseling of patients with a wide range of renal manifestations.

中文翻译：

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遗传和基因组测试在小儿肾脏和尿路疾病患者精确诊断和管理中的临床应用

随着遗传学和基因组学测试越来越多地整合到肾脏病学实践中，我们对许多肾脏疾病基础的理解呈指数增长。鉴于此，我们最近在我们大型的城市儿童医院开设了肾脏遗传学诊所（RGC），以治疗具有个人或严重肾脏疾病家族史的患者。遗传测试是在临床实验室改进修正案（CLIA）认证的实验室中进行的，使用单基因测试，多基因面板，染色体微阵列（CMA）或外显子组测序（ES）。该诊所总共评估了192名患者（185名先证者），其中最常见的原因是囊性肾病（49/192），其次是先天性肾脏和泌尿道异常（CAKUT：41/192）和血尿。 （38/192）。对153个先证者进行了基因测试，总诊断产率为75/153（49％）。在达到分子诊断的患者中，有13/75（17.3％）的患者受到了医学或外科治疗的影响，而在12/75（16％）的患者中，以前的临床诊断改变为更准确的分子诊断。这种测试为儿童提供了准确的诊断，并且在某些情况下导致了看似无症状的家庭成员的进一步诊断，并改变了整体医疗管理。因此，在这种专门的临床环境下进行的分子检测似乎在诊断和咨询具有多种肾脏表现的患者中具有明确的用途。患者的医学或外科治疗受到影响，并且在12/75（16％）中，以前的临床诊断已更改为更准确的分子诊断。这种测试为儿童提供了准确的诊断，并且在某些情况下导致了看似无症状的家庭成员的进一步诊断，并改变了整体医疗管理。因此，在这种专门的临床环境下进行的分子检测似乎在诊断和咨询具有多种肾脏表现的患者中具有明确的用途。患者的医学或外科治疗受到影响，并且在12/75（16％）中，以前的临床诊断已更改为更准确的分子诊断。这种测试为儿童提供了准确的诊断，并且在某些情况下导致了看似无症状的家庭成员的进一步诊断并改变了整体医疗管理。因此，在这种专门的临床环境下进行的分子检测似乎在诊断和咨询具有广泛肾脏表现的患者中具有明确的用途。