Soroka Steven, Alam Ahsan, Bevilacqua Micheli, Girard Louis-Philippe, Komenda Paul, Loertscher Rolf, McFarlane Philip, Pandeya Sanjaya, Tam Paul, Bichet Daniel G
Division of Nephrology, Dalhousie University, Halifax, NS, Canada.
Division of Nephrology, Royal Victoria Hospital, McGill University, Montréal, QC, Canada.
Can J Kidney Health Dis. 2018 Oct 12;5:2054358118801589. doi: 10.1177/2054358118801589. eCollection 2018.
The purpose of this article is to update the previously published consensus recommendations from March 2017 discussing the optimal management of adult patients with autosomal dominant polycystic kidney disease (ADPKD). This document focuses on recent developments in genetic testing, renal imaging, assessment of risk regarding disease progression, and pharmacological treatment options for ADPKD.
Published literature was searched in PubMed, the Cochrane Library, and Google Scholar to identify the latest evidence related to the treatment and management of ADPKD.
All pertinent articles were reviewed by the authors to determine if a new recommendation was required, or if the previous recommendation needed updating. The consensus recommendations were developed by the authors based on discussion and review of the evidence.
The genetics of ADPKD are becoming more complex with the identification of new and rarer genetic variants such as . Magnetic resonance imaging (MRI) and computed tomography (CT) continue to be the main imaging modalities used to evaluate ADPKD. Total kidney volume (TKV) continues to be the most validated and most used measure to assess disease progression. Since the publication of the previous consensus recommendations, the use of the Mayo Clinic Classification for prognostication purposes has been validated in patients with class 1 ADPKD. Recent evidence supports the benefits of a low-osmolar diet and dietary sodium restriction in patients with ADPKD. Evidence from the Replicating Evidence of Preserved Renal Function: an Investigation of Tolvaptan Safety and Efficacy in ADPKD (REPRISE) trial supports the use of ADH (antidiuretic hormone) receptor antagonism in patients with ADPKD 18 to 55 years of age with eGFR (estimated glomerular filtration rate) of 25 to 65 mL/min/1.73 m or 56 to 65 years of age with eGFR of 25 to 44 mL/min/1.73 m with historical evidence of a decline in eGFR >2.0 mL/min/1.73 m/year.
Available literature was limited to English language publications and to publications indexed in PubMed, the Cochrane Library, and Google Scholar.
Advances in the assessment of the risk of disease progression include the validation of the Mayo Clinic Classification for patients with class 1 ADPKD. Advances in the pharmacological management of ADPKD include the expansion of the use of ADH receptor antagonism in patients 18 to 55 years of age with eGFR of 25 to 65 mL/min/1.73 m or 56 to 65 years of age with eGFR of 25 to 44 mL/min/1.73 m with historical evidence of a decline in eGFR >2.0 mL/min/1.73 m/year, as per the results of the REPRISE study.
本文旨在更新2017年3月发表的关于常染色体显性多囊肾病（ADPKD）成年患者最佳管理的共识建议。本文着重于基因检测、肾脏成像、疾病进展风险评估以及ADPKD药物治疗选择方面的最新进展。
在PubMed、Cochrane图书馆和谷歌学术中检索已发表文献，以识别与ADPKD治疗和管理相关的最新证据。
作者对所有相关文章进行了审查，以确定是否需要新的建议，或者之前的建议是否需要更新。作者基于对证据的讨论和审查制定了共识建议。
随着新的和更罕见的基因变异（如……）的发现，ADPKD的遗传学变得更加复杂。磁共振成像（MRI）和计算机断层扫描（CT）仍然是用于评估ADPKD的主要成像方式。总肾体积（TKV）仍然是评估疾病进展最有效且使用最多的指标。自上次共识建议发表以来，梅奥诊所分类法用于预后评估在1型ADPKD患者中已得到验证。最近的证据支持低渗饮食和限制饮食中钠摄入对ADPKD患者有益。肾脏功能保留的重复证据：托伐普坦在ADPKD中的安全性和有效性研究（REPRISE）试验的证据支持在年龄为18至55岁、估算肾小球滤过率（eGFR）为25至65 mL/min/1.73 m²，或年龄为56至65岁、eGFR为25至44 mL/min/1.73 m²且有eGFR每年下降>2.0 mL/min/1.73 m²历史证据的ADPKD患者中使用抗利尿激素（ADH）受体拮抗剂。
现有文献仅限于英文出版物以及在PubMed、Cochrane图书馆和谷歌学术中索引的出版物。
疾病进展风险评估方面的进展包括梅奥诊所分类法在1型ADPKD患者中的验证。ADPKD药物管理方面的进展包括根据REPRISE研究结果，将ADH受体拮抗剂的使用扩展至年龄为18至55岁、eGFR为25至65 mL/min/1.73 m²，或年龄为56至65岁、eGFR为25至44 mL/min/1.73 m²且有eGFR每年下降>2.0 mL/min/1.73 m²历史证据的患者。
