Wigerinck Stijn, Schellekens Pieter, Smith Byron H, Hanna Christian, Dachy Angelique, Chedid Maroun, Borghol Abdul Hamid, Senum Sarah R, Bockenhauer Detlef, Harris Peter C, Jouret Francois, Bammens Bert, Chebib Fouad T, Mekahli Djalila
PKD Research Group, Laboratory of Ion Channel Research, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.
Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
Pediatr Nephrol. 2025 Jun;40(6):1997-2007. doi: 10.1007/s00467-024-06652-7. Epub 2025 Feb 1.
Autosomal dominant polycystic kidney disease (ADPKD) demonstrates broad genetic and phenotypic variability, with kidney failure (KF) occurring across a wide age spectrum. Despite several predictor tools, there remains a need to identify factors associated with rapid disease progression. This study describes the phenotypic characteristics of a multicentric cohort experiencing early-onset KF by age 40.
This retrospective, multicenter cohort study analyzed longitudinal data of rapidly progressive ADPKD patients (n = 199). The prevalence of established risk factors was compared to nine existing ADPKD cohorts (n = 6782) with KF after 40 years of age. We examined the longitudinal impact of early hypertension and urological events on the risk of developing KF.
The median age at ADPKD diagnosis was 22.3 years (IQR, 16.5-28.6) and median age of KF was 35.6 years (31.7-38.0). Hypertension was observed in 68.1% of cases, with early-onset hypertension being more common among those with accelerated progression towards KF. Urological events were present in 60.1% of cases, with a high burden of gross hematuria (30.4%). Existing ADPKD cohorts had a mean age of 45.5 years, with weighted prevalences of hypertension (71.1%), kidney stones (22.4%), hematuria (22.9%), and urinary tract infections (22.8%). Extrarenal manifestations were less prevalent compared to other ADPKD cohorts.
This study outlines a cohort of ADPKD patients with accelerated disease progression, reaching KF before age 40. Hypertension and urological events were highly prevalent at a young age, emphasizing the importance of early and regular blood pressure monitoring.
常染色体显性多囊肾病（ADPKD）具有广泛的遗传和表型变异性，肾衰竭（KF）可发生在较宽的年龄范围内。尽管有几种预测工具，但仍需要确定与疾病快速进展相关的因素。本研究描述了一个多中心队列中40岁前出现早发性肾衰竭的患者的表型特征。
这项回顾性多中心队列研究分析了快速进展性ADPKD患者（n = 199）的纵向数据。将已确定的风险因素的患病率与9个现有的ADPKD队列（n = 6782）进行比较，这些队列中的患者在40岁后出现肾衰竭。我们研究了早期高血压和泌尿系统事件对发生肾衰竭风险的纵向影响。
ADPKD诊断时的中位年龄为22.3岁（四分位间距，16.5 - 28.6），肾衰竭的中位年龄为35.6岁（31.7 - 38.0）。68.1%的病例观察到高血压，早发性高血压在那些向肾衰竭加速进展的患者中更为常见。60.1%的病例存在泌尿系统事件，肉眼血尿负担较高（30.4%）。现有的ADPKD队列的平均年龄为45.5岁，高血压加权患病率为71.1%，肾结石为22.4%，血尿为22.9%，尿路感染为22.8%。与其他ADPKD队列相比，肾外表现较少见。
本研究概述了一组疾病进展加速、40岁前达到肾衰竭的ADPKD患者。高血压和泌尿系统事件在年轻时高度流行，强调了早期和定期血压监测的重要性。
