2025版KDIGO常染色体显性多囊肾病评估、管理和治疗临床实践指南要点解读

摘要/Abstract

摘要：

常染色体显性多囊肾病（autosomal dominant polycystic kidney disease，ADPKD）是一种最常见的遗传性肾脏囊肿疾病，也是导致终末期肾脏替代治疗的重要病因。2025年2月，改善全球肾脏病预后组织（Kidney Di-sease：Improving Global Outcomes，KDIGO）发布了首个针对ADPKD的临床实践指南——《改善全球肾脏病预后组织常染色体显性多囊肾病的评估、管理和治疗临床实践指南》。该指南共10个章节，全方位涵盖了ADPKD命名法、诊断、预后和患病率；肾脏表现；慢性肾脏疾病的管理和进展、肾衰竭和肾脏替代治疗；延缓肾脏疾病进展的治疗；多囊肝病；颅内动脉瘤及其他肾外表现；生活方式和社会心理方面；怀孕和生殖问题；儿科问题以及管理ADPKD患者的方法，强调了ADPKD的早期诊断、风险分层、综合管理以及新药托伐普坦的应用，并首次提出基于致病基因的新型命名方式，以及更严格的血压管理方案。本文结合指南要点、循证医学证据及我国临床实践，重点对于新版指南中关于“ADPKD的早期诊断和风险分层”和“肾脏相关症状的治疗及日常管理”2个关键临床问题进行解读，深入分析指南的指导意义及局限性，推进ADPKD的标准化诊疗。

关键词:改善全球肾脏病预后组织,常染色体显性多囊肾病,评估,管理,指南

Abstract:

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary renal cystic disorders and a major cause of end-stage renal disease requiring renal replacement therapy. In February 2025, Kidney Disease: Improving Global Outcomes (KDIGO) released the first clinical practice guideline specifically for ADPKD entitled "KDIGO Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease". The guideline comprises 10 chapters covering nomenclature, diagnosis, prognosis, and prevalence of ADPKD; renal manifestations; management and progression of chronic kidney disease, renal failure, and renal replacement therapy; treatments to delay renal disease progression; polycystic liver disease; intracranial aneurysms and other extrarenal manifestations; lifestyle and psychosocial considerations; pregnancy and reproductive problems; pediatric problems; and approaches to ADPKD patient management. It highlights early diagnosis, risk stratification, integrated management, and application of the new drug tolvaptan. Additionally, the guideline introduces a new nomenclature system based on pathogenic genes for the first time, along with more stringent blood pressure management plans. By integrating guideline highlights, evidence-based medicine, and China's clinical practice, this study interprets two key clinical issues in the updated guideline: "early diagnosis and risk stratification of ADPKD" and "treatment and daily management of kidney-related symptoms." A thorough analysis of the guideline's implications and limitations is conducted, aiming to promote standardized diagnosis and therapy for ADPKD.

Key words:Kidney Disease: Improving Global Outcomes,Autosomal dominant polycystic kidney disease,Evaluation,Management,Guideline

中图分类号:

R596
R692

吴双成, 郁胜强. 2025版KDIGO常染色体显性多囊肾病评估、管理和治疗临床实践指南要点解读[J]. 诊断学理论与实践, 2025, 24(03): 255-262.

WU Shuangcheng, YU Shengqiang. Interpretation of key points in 2025 KDIGO Clinical Practice Guideline for the Evaluation，Management，and Treatment of Autosomal Dominant Polycystic Kidney Disease[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(03): 255-262.

图/表4

诊断方法	年龄	诊断标准	排除标准
超声检查	15~39岁	总囊肿数≥3个	总囊肿数<1个
40~59岁	每侧肾囊肿数≥2个	总囊肿数<2个
≥60岁	每侧肾囊肿数≥4个	-
MRI检查	16~40岁	总囊肿数>10个	总囊肿数<5个

表1

图1

图2

年龄	基本情况	推荐目标
18~49岁	CKD G1-G2，血压>130/85 mmHg	家测血压（如耐受）<110/75 mmHg
CKD G1-G2，血压（110/75）~（130/85） mmHg	个体化控制
CKD G3-G5	收缩压（如耐受）<120 mmHg
≥50岁	CKD G1-G5	收缩压（如耐受）<120 mmHg

表2

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