Division of Nephrology, Department of Medicine, University Health Network and University of Toronto, 8N838, 585 University Avenue, Toronto, ON, M5G 2N2, Canada.
Department of Medical Imaging, University Health Network and University of Toronto, Toronto, ON, Canada.
Sci Rep. 2023 Feb 20;13(1):2952. doi: 10.1038/s41598-022-24104-w.
Using age- and height-adjusted total kidney volume, the Mayo Clinic Imaging Classification provides a validated approach to assess the risk of chronic kidney disease (CKD) progression in autosomal dominant polycystic kidney disease (ADPKD), but requires excluding patients with atypical imaging patterns, whose clinical characteristics have been poorly defined. We report an analysis of the prevalence, clinical and genetic characteristics of patients with atypical polycystic kidney disease by imaging. Patients from the extended Toronto Genetic Epidemiology Study of Polycystic Kidney Disease recruited between 2016 and 2018 completed a standardized clinical questionnaire, kidney function assessment, genetic testing, and kidney imaging by magnetic resonance or computed tomography. We compared the prevalence, clinical features, genetics, and renal prognosis of atypical versus typical polycystic kidney disease by imaging. Forty-six of the 523 (8.8%) patients displayed atypical polycystic kidney disease by imaging; they were older (55 vs. 43 years; P < 0.001), and less likely to have a family history of ADPKD (26.1% vs. 74.6%; P < 0.001), a detectable PKD1 or PKD2 mutation (9.2% vs. 80.4%; P < 0.001), or progression to CKD stage 3 or stage 5 (P < 0.001). Patients with atypical polycystic kidney disease by imaging represent a distinct prognostic group with a low likelihood of progression to CKD.
使用年龄和身高调整后的总肾体积，Mayo 临床成像分类为常染色体显性多囊肾病（ADPKD）的慢性肾脏病（CKD）进展风险评估提供了一种经过验证的方法，但需要排除具有非典型成像模式的患者，这些患者的临床特征尚未明确。我们通过成像报告了一组非典型多囊肾病患者的患病率、临床和遗传特征的分析。2016 年至 2018 年期间，扩展的多伦多多囊肾病遗传流行病学研究招募的患者完成了标准化临床问卷、肾功能评估、基因检测以及磁共振或计算机断层扫描的肾脏成像。我们比较了成像的非典型和典型多囊肾病的患病率、临床特征、遗传学和肾脏预后。46 名患者（8.8%）的成像显示为非典型多囊肾病；他们年龄更大（55 岁 vs. 43 岁；P<0.001），且更不可能有 ADPKD 的家族史（26.1% vs. 74.6%；P<0.001），可检测到 PKD1 或 PKD2 突变（9.2% vs. 80.4%；P<0.001），或进展为 CKD 3 期或 5 期（P<0.001）。成像显示非典型多囊肾病的患者代表了一个具有低 CKD 进展可能性的独特预后组。
