Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg, Heidelberg, Germany.
Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker University Hospital, APHP, Université de Paris, Paris, France.
Orphanet J Rare Dis. 2021 Jun 2;16(1):251. doi: 10.1186/s13023-021-01872-8.
The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient's outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically.
Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases.
ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes.
欧洲罕见肾脏疾病参考网络（ERKNet）最近成立了 ERKReg，这是一个针对所有罕见肾脏疾病患者的基于网络的登记处。该核心登记处的主要目的是生成流行病学信息，为临床研究确定当前患者队列，探索诊断和治疗管理实践，并监测治疗效果和患者预后。该登记处具有模块化设计，允许将全面的疾病特异性登记处作为核心数据库的扩展进行集成。记录了诊断（Orphacode）和诊断信息（临床、影像、组织病理学、生化、免疫和遗传）。每年获取告知 61 个关键绩效指标（KPI）的人体测量学、肾功能以及疾病特异性管理和结果项目。通过数据输入时的自动合理性检查和定期的离线数据库检查提示查询，确保数据质量。中心 KPI 统计数据和基准测试是自动计算的。
在启动后的头 24 个月内，该登记处已在 21 个国家的 45 个儿科和 12 个专门的成人肾病单位招募了 7607 名患者。这些患者中有 97.1%在入组时已确诊肾脏疾病。虽然 Orphacode 报告了 199 种个体疾病实体，但 50%的队列可以用 11 种、80%用 43 种和 95%用 92 种代码进行分类。6.5%的患者有两种肾脏诊断；5.9%患有综合征疾病。虽然成人中最主要的疾病组是肾小球疾病（54.8%）和包括常染色体显性多囊肾病（ADPKD）在内的纤毛病（31.5%），但儿科疾病谱包括先天性肾和尿路畸形（CAKUT）（33.7%）、肾小球疾病（30.7%）、纤毛病（14.0%）、肾小管病（9.2%）、血栓性微血管病（5.6%）和代谢性肾病（4.1%）。所有儿科患者中有 24%和所有成人患者中有 12%报告了基因确诊诊断，而 80.4%的成人和 38.5%的儿科肾小球疾病患者通过肾活检确诊了肾小球疾病。
ERKReg 是一个快速增长的流行病学信息和临床研究患者队列来源，也是监测管理质量和患者预后的创新工具。
