Ortiz Alberto, Kramer Anneke, Ariceta Gema, Rodríguez Arévalo Olga L, Gjerstad Ann C, Santiuste Carmen, Trujillo-Alemán Sara, Ferraro Pietro Manuel, Methven Shona, Santamaría Rafael, Naumovic Radomir, Resic Halima, Hommel Kristine, Segelmark Mårten, Ambühl Patrice M, Sorensen Søren S, Parmentier Cyrielle, Vidal Enrico, Bakkaloglu Sevcan A, Plumb Lucy, Palsson Runolfur, Kerschbaum Julia, Ten Dam Marc A G J, Stel Vianda S, Jager Kitty J, Torra Roser
Department of Nephrology and Hypertension, IIS-Fundacion Jimenez Diaz UAM, Madrid, Spain.
Department of Medicine, Universidad Autonoma de Madrid, Madrid, Spain.
Nephrol Dial Transplant. 2025 Apr 28;40(5):1020-1031. doi: 10.1093/ndt/gfae240.
Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are causes of kidney failure requiring kidney replacement therapy (KRT) that major renal registries usually amalgamate into the primary renal disease(PRD) category 'miscellaneous' or in the glomerulonephritis or pyelonephritis categories. This makes IKDs invisible (except for polycystic kidney disease) and may negatively influence the use of genetic testing, which may identify a cause for IKDs and some CAKUT.
We re-examined the aetiology of KRT by composing a separate IKD and CAKUT PRD group using data from the European Renal Association (ERA) Registry.
In 2019, IKD-CAKUT was the fourth most common cause of kidney failure among incident KRT patients, accounting for 8.9% of cases [IKD 7.4% (including 5.0% autosomal dominant polycystic kidney disease), CAKUT 1.5%], behind diabetes (23.0%), hypertension (14.4%) and glomerulonephritis (10.6%). IKD-CAKUT was the most common cause of kidney failure among patients <20 years of age (41.0% of cases), but their incidence rate was highest among those ages 45-74 years (22.5 per million age-related population). Among prevalent KRT patients, IKD-CAKUT (18.5%) and glomerulonephritis (18.7%) were the two most common causes of kidney failure overall, while IKD-CAKUT was the most common cause in women (21.6%) and in patients <45 years of age (29.1%).
IKD and CAKUT are common causes of kidney failure among KRT patients. Distinct categorization of IKD and CAKUT better characterizes the epidemiology of the causes of chronic kidney disease (CKD) and highlights the importance of genetic testing in the diagnostic workup of CKD.
遗传性肾病（IKDs）和先天性肾脏和尿路异常（CAKUT）是导致肾衰竭需要肾脏替代治疗（KRT）的原因，主要肾脏登记处通常将其合并到原发性肾病（PRD）类别“其他”或肾小球肾炎或肾盂肾炎类别中。这使得IKDs不被重视（除多囊肾病外），并可能对基因检测的应用产生负面影响，而基因检测可能会确定IKDs和一些CAKUT的病因。
我们使用欧洲肾脏协会（ERA）登记处的数据，通过组建一个单独的IKD和CAKUT PRD组，重新审视了KRT的病因。
2019年，IKD-CAKUT是新发病例KRT患者中第四大常见的肾衰竭病因，占病例的8.9%[IKD占7.4%（包括5.0%常染色体显性多囊肾病），CAKUT占1.5%]，仅次于糖尿病（23.0%）、高血压（14.4%）和肾小球肾炎（10.6%）。IKD-CAKUT是20岁以下患者中最常见的肾衰竭病因（占病例的41.0%），但其发病率在45-74岁人群中最高（每百万年龄相关人群中22.5例）。在接受KRT的现患患者中，IKD-CAKUT（18.5%）和肾小球肾炎（18.7%）是总体上最常见的两个肾衰竭病因，而IKD-CAKUT是女性（21.6%）和45岁以下患者（29.1%）中最常见的病因。
IKD和CAKUT是KRT患者肾衰竭的常见病因。对IKD和CAKUT进行明确分类能更好地描述慢性肾脏病（CKD）病因的流行病学特征，并突出基因检测在CKD诊断检查中的重要性。
