切换至 "中华医学电子期刊资源库"

中华诊断学电子杂志 ›› 2026, Vol. 14 ›› Issue (02) : 126 -132. doi: 10.3877/cma.j.issn.2095-655X.2026.02.009

所属专题: 文献

综述

常染色体显性遗传性多囊肾病的诊断治疗进展
刘萌1, 徐璐2, 李新建3,(), 巩莎4, 潘彤彤1, 贾硕1   
  1. 1272029 济宁医学院临床医学院
    2272029 济宁医学院附属医院血液净化科
    3272029 济宁医学院附属医院肾内科
    4272399 鱼台县人民医院肾内科
  • 收稿日期:2026-01-09 出版日期:2026-05-26
  • 通信作者: 李新建
  • 基金资助:
    济宁市重点研发计划项目(2024YXNS093)

Advances in diagnosis and treatment of autosomal dominant polycystic kidney disease

Meng Liu1, Lu Xu2, Xinjian Li3,(), Sha Gong4, Tongtong Pan1, Shuo Jia1   

  1. 1College of Clinical Medicine, Jining Medical University, Jining 272029, China
    2Department of Hemopurification, the Affiliated Hospital of Jining Medical University, Jining 272029, China
    3Department of Nephrology, the Affiliated Hospital of Jining Medical University, Jining 272029, China
    4Department of Nephrology, Yutai County People′s Hospital, Jining 272399, China
  • Received:2026-01-09 Published:2026-05-26
  • Corresponding author: Xinjian Li
引用本文:

刘萌, 徐璐, 李新建, 巩莎, 潘彤彤, 贾硕. 常染色体显性遗传性多囊肾病的诊断治疗进展[J/OL]. 中华诊断学电子杂志, 2026, 14(02): 126-132.

Meng Liu, Lu Xu, Xinjian Li, Sha Gong, Tongtong Pan, Shuo Jia. Advances in diagnosis and treatment of autosomal dominant polycystic kidney disease[J/OL]. Chinese Journal of Diagnostics(Electronic Edition), 2026, 14(02): 126-132.

常染色体显性遗传性多囊肾病(ADPKD)是一种常见的遗传性肾脏疾病,核心发病机制为PKD1/PKD2基因突变导致多囊蛋白功能缺陷,进而引起囊肿形成与肾损伤。基于2025年KDIGO指南,ADPKD诊断首选肾脏超声进行筛查,并结合梅奥影像分级与多囊肾病肾脏预后预测评分实现精准风险分层;利用磁共振成像进行肾体积分析监测疾病进展,辅以基因检测明确致病变异。治疗上,托伐普坦作为核心药物,可显著延缓囊肿增长与肾功能衰竭。笔者系统梳理ADPKD的背景与发病机制,并重点阐述影像学与基因诊断的最新标准,以及基因治疗、细胞治疗等前沿进展,旨在为ADPKD的临床精准诊疗提供参考。

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disorder. Its core pathogenesis involves PKD1/PKD2 gene mutations leading to polycystin dysfunction, which subsequently results in cyst formation and kidney injury. Based on the 2025 KDIGO guidelines, renal ultrasound is the preferred screening modality, combined with the Mayo imaging classification (MIC) and predicting renal outcome in polycystic kidney disease (PROPKD) score for precise risk stratification. Magnetic resonance imaging (MRI) is utilized for kidney volume analysis to monitor disease progression, complemented by genetic testing to identify pathogenic variants. Therapeutically, tolvaptan serves as the pivotal agent that can significantly delay cyst growth and kidney failure. This review systematically outlines the background and pathogenesis of ADPKD, with a focus in the latest standards for imaging and genetic diagnosis, as well as cutting-edge advances such as gene and cell therapies, aiming to provide a reference for the precise clinical diagnosis and management of ADPKD.

图1 常染色体显性遗传性多囊肾病筛查与诊断流程注:US为超声检查;MRI为磁共振成像;LR-PCR为长片段聚合酶链式反应;NGS为二代测序;LRS为长读长测序;HtTKV为身高标化的肾脏总体积;MIC为梅奥影像分级;PROPKD为多囊肾病肾脏预后预测评分;eGFR为估算肾小球滤过率;US和MRI诊断标准仅适用于由PKD1或PKD2基因突变导致
[1]
Chebib FTHanna CHarris PC,et al.Autosomal dominant polycystic kidney disease:a review[J].JAMA2025333(19):1708-1719.DOI:10.1001/jama.2025.0310.
[2]
Suarez MTitan SDahl NK.Autosomal dominant polycystic kidney disease[J].Adv Kidney Dis Health202431(6):496-503.DOI:10.1053/j.akdh.2024.07.003.
[3]
Torres VEAhn CBarten T,et al.KDIGO 2025 clinical practice guideline for the evaluation,management,and treatment of autosomal dominant polycystic kidney disease (ADPKD):executive summary[J].Kidney Int2025107(2):234-254.DOI:10.1016/j.kint.2024.07.010.
[4]
Qiu JGermino GGMenezes LF.Mechanisms of cyst development in polycystic kidney disease[J].Adv Kidney Dis Health202330(3):209-219.DOI:10.1053/j.akdh.2023.03.001.
[5]
Sussman CRWang XChebib FT,et al.Modulation of polycystic kidney disease by G-protein coupled receptors and cyclic AMP signaling[J].Cell Signal2020(72):109649.DOI:10.1016/j.cellsig.2020.109649.
[6]
Scholz JKKraus ALüder D,et al.Loss of Polycystin-1 causes cAMP-dependent switch from tubule to cyst formation[J].iScience202225(6):104359.DOI:10.1016/j.isci.2022.104359.
[7]
Hansen JNKaiser FLeyendecker P,et al.A cAMP signalosome in primary cilia drives gene expression and kidney cyst formation[J].EMBO Rep202223(8):e54315.DOI:10.15252/embr.202154315.
[8]
Xu YKuppe CPerales-Patón J, et al. Adult human kidney organoids originate from CD24(+) cells and represent an advanced model for adult polycystic kidney disease[J].Nat Genet202254(11):1690-1701.DOI:10.1038/s41588-022-01202-z.
[9]
Song AZhang CMeng X.Mechanism and application of metformin in kidney diseases:an update[J].Biomed Pharmacother2021(138):111454.DOI:10.1016/j.biopha.2021.111454.
[10]
Liu MZhang CGong X,et al.Kidney organoid models reveal cilium-autophagy metabolic axis as a therapeutic target for PKD both in vitro and in vivo[J].Cell Stem Cell202431(1):52-70.e8.DOI:10.1016/j.stem.2023.12.003.
[11]
Zhang YDaniel EAMetcalf J,et al.CaMK4 overexpression in polycystic kidney disease promotes mTOR-mediated cell proliferation[J].J Mol Cell Biol202214(7):mjac050.DOI:10.1093/jmcb/mjac050.
[12]
Remadevi VJamadar AVarghese MM,et al.Pirfenidone treatment attenuates fibrosis in autosomal dominant polycystic kidney disease[J].bioRxiv2025:2025.08.25.672225.DOI:10.1101/2025.08.25.672225.
[13]
Strubl STorres JASpindt AK,et al.STAT signaling in polycystic kidney disease[J].Cell Signal2020(72):109639.DOI:10.1016/j.cellsig.2020.109639.
[14]
Wu JCheng SLee G,et al.STING promotes the progression of ADPKD by regulating mitochondrial function,inflammation,fibrosis,and apoptosis[J].Biomolecules202414(10):1215.DOI:10.3390/biom14101215.
[15]
Zhou JXCheng ASChen L,et al.CD74 promotes cyst growth and renal fibrosis in autosomal dominant polycystic kidney disease[J].Cells202413(6):489.DOI:10.3390/cells13060489.
[16]
Lv J, Lan B, Fu L, et al. EZH2 inhibition or genetic ablation suppresses cyst growth in autosomal dominant polycystic kidney disease[J].J Transl Med202422(1):979.DOI:10.1186/s12967-024-05785-5.
[17]
Lee EJSeo EKim JW,et al.TAZ/Wnt-β-catenin/c-MYC axis regulates cystogenesis in polycystic kidney disease[J].Proc Natl Acad Sci U S A2020117(46):29001-29012.DOI:10.1073/pnas.2009334117.
[18]
Zhang XLi LXDing H,et al.Ferroptosis promotes cyst growth in autosomal dominant polycystic kidney disease mouse models[J].J Am Soc Nephrol202132(11):2759-2776.DOI:10.1681/ASN.2021040460.
[19]
Odedra DSabongui SKhalili K,et al.Autosomal dominant polycystic kidney disease:role of imaging in diagnosis and management[J].Radiographics202343(1):e220126.DOI:10.1148/rg.220126.
[20]
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202524(3):255-262.DOI:10.16150/j.1671-2870.2025.03.003.
[21]
Nigro EAmicone MD'Arco D,et al. Molecular diagnosis and identification of novel pathogenic variants in a large cohort of Italian patients affected by polycystic kidney diseases[J].Genes (Basel)202314(6):1236.DOI:10.3390/genes14061236.
[22]
Pei YObaji JDupuis A,et al.Unified criteria for ultrasonographic diagnosis of ADPKD[J].J Am Soc Nephrol200920(1):205-212.DOI:10.1681/asn.2008050507.
[23]
中华医学会遗传学分会遗传病临床实践指南撰写组.多囊肾病的临床实践指南[J].中华医学遗传学杂志202037(3):277-283.DOI:10.3760/cma.j.issn.1003-9406.2020.03.009.
[24]
Pei YHwang Y HConklin J,et al.Imaging-based diagnosis of autosomal dominant polycystic kidney disease[J].J Am Soc Nephrol201526(3):746-753.DOI:10.1681/asn.2014030297.
[25]
Schönauer RBaatz SNemitz-Kliemchen M,et al.Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes[J].Genet Med202022(8):1374-1383.DOI:10.1038/s41436-020-0816-3.
[26]
Orisio SNoris MRigoldi M,et al.Mutation analysis of PKD1 and PKD2 genes in a large italian cohort reveals novel pathogenic variants including a novel complex rearrangement[J].Nephron2024148(5):273-291.DOI:10.1159/000530657.
[27]
Bleyer AJWestemeyer MXie J,et al.Genetic etiologies for chronic kidney disease revealed through next-generation renal gene panel[J].Am J Nephrol202253(4):297-306.DOI:10.1159/000522226.
[28]
Sun QXu PMao A,et al.Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis[J].NPJ Genom Med202510(1):22.DOI:10.1038/s41525-025-00477-5.
[29]
托伐普坦治疗快速进展型常染色体显性多囊肾病专家组.托伐普坦治疗快速进展型常染色体显性多囊肾病中国专家共识[J].中华肾脏病杂志202238(7):644-652.DOI:10.3760/cma.j.cn441217-20220110-00093.
[30]
Bais TGeertsema PKnol M,et al.Validation of the mayo imaging classification system for predicting kidney outcomes in ADPKD[J].Clin J Am Soc Nephrol202419(5):591-601.DOI:10.2215/CJN.0000000000000427.
[31]
Bais TKnol MXue L,et al.Predicting kidney outcomes in autosomal dominant polycystic kidney disease:a comprehensive biomarker analysis[J].Clin J Am Soc Nephrol202520(5):608-618.DOI:10.2215/CJN.0000000680.
[32]
van Luijk FGansevoort RTBlokzijl H,et al.Multidisciplinary management of chronic refractory pain in autosomal dominant polycystic kidney disease[J].Nephrol Dial Transplant202338(3):618-629.DOI:10.1093/ndt/gfac158.
[33]
Nowak KLHopp K.Metabolic reprogramming in autosomal dominant polycystic kidney disease:evidence and therapeutic potential[J].Clin J Am Soc Nephrol202015(4):577-584.DOI:10.2215/CJN.13291019.
[34]
Capelli ILerario SAiello V, et al. Diet and physical activity in adult dominant polycystic kidney disease:a review of the literature[J].Nutrients202315(11):2621.DOI:10.3390/nu15112621.
[35]
Brioni E, Villa G, Manara DF, et al. The educational aspect in promoting a low-sodium diet,physical activity and therapy adherence among patients with autosomal dominant polycystic disease:a literature review[J].G Ital Nefrol202340(5):2023-vol5.
[36]
Kidney Disease:Improving Global Outcomes(KDIGO) Blood Pressure Work Group.KDIGO 2021 clinical practice guideline for the management of blood pressure in chronic kidney disease[J].Kidney Int202199(3S):S1-S87.DOI:10.1016/j.kint.2020.11.003.
[37]
Muensterman ETorres JAWeimbs T.Real-world outcomes of managing autosomal-dominant polycystic kidney disease using a medical food as part of a nutrition and lifestyle program to improve renal and metabolic health[J].Front Nutr2025(12):1624639.DOI:10.3389/fnut.2025.1624639.
[38]
de Chickera SAlam A.Dialysis and transplant considerations in autosomal dominant polycystic kidney disease[J].Adv Kidney Dis Health202330(5):461-467.DOI:10.1053/j.akdh.2023.06.005.
[39]
Geertsema PBais TKuiken V,et al.The long-term effect of tolvaptan treatment on kidney function and volume in patients with ADPKD[J].Nephrol Dial Transplant202540(9):1764-1774.DOI:10.1093/ndt/gfaf048.
[40]
Betts KANunna SKumar R,et al.Tolvaptan and number needed to harm in autosomal dominant polycystic kidney disease[J].Kidney Med20246(4):100802.DOI:10.1016/j.xkme.2024.100802.
[41]
Stanley IKPalma AMViecelli AK,et al.A secondary analysis of concurrent use of metformin and tolvaptan in ADPKD tolvaptan trials[J].J Nephrol202437(5):1417-1419.DOI:10.1007/s40620-024-01906-x.
[42]
Ong AGansevoort RT.TAMEing ADPKD with metformin:safe and effective?[J].Kidney Int2021100(3):513-515.DOI:10.1016/j.kint.2021.07.021.
[43]
Su LYuan HZhang H,et al.PF-06409577 inhibits renal cyst progression by concurrently inhibiting the mTOR pathway and CFTR channel activity[J].FEBS Open Bio202212(10):1761-1770.DOI:10.1002/2211-5463.13459.
[44]
Gulieva REAhmadvand PFreedman BS.A novel rapalog shows improved safety vs.efficacy in a human organoid model of polycystic kidney disease[J].Stem Cell Reports202520(2):102395.DOI:10.1016/j.stemcr.2024.102395.
[45]
Bou Antoun MTBorghol AHSouvalian L,et al.Sodium-glucose cotransporter 2 inhibitors in autosomal dominant polycystic kidney disease:mechanistic insights and therapeutic promise[J].J Am Soc Nephrol202637(4):861-880.DOI:10.1681/ASN.0000000943.
[46]
Cebotaru LLiu QYanda MK,et al.Inhibition of histone deacetylase 6 activity reduces cyst growth in polycystic kidney disease[J].Kidney Int201690(1):90-99.DOI:10.1016/j.kint.2016.01.026.
[47]
Chen X, Yu C, Hou X, et al. Histone deacetylase 6 inhibition mitigates renal fibrosis by suppressing TGF-β and EGFR signaling pathways in obstructive nephropathy[J].Am J Physiol Renal Physiol2020319(6):F1003-F1014.DOI:10.1152/ajprenal.00261.2020.
[48]
Cao XFan ZXu L,et al.Benzothiazole derivatives as histone deacetylase inhibitors for the treatment of autosomal dominant polycystic kidney disease[J].Eur J Med Chem2024(271):116428.DOI:10.1016/j.ejmech.2024.116428.
[49]
Sun YZou QYu H,et al.Melanin-like nanoparticles slow cyst growth in ADPKD by dual inhibition of oxidative stress and CREB[J].EMBO Mol Med202517(1):169-192.DOI:10.1038/s44321-024-00167-2.
[50]
Lee EValencia T MVarrone F ,et al.Discovery of next-generation anti-miR-17 oligonucleotide RGLS8429 for treatment of autosomal dominant polycystic kidney disease (ADPKD):TH-PO408 [J].J Am Soc Nephrol202233(11S):160.DOI:10.1681/ASN.20223311S1160c.
[51]
Bais TGansevoort RTMeijer E.Drugs in clinical development to treat autosomal dominant polycystic kidney disease[J].Drugs202282(10):1095-1115.DOI:10.1007/s40265-022-01745-9.
[52]
李馨茗,毛志国,梅长林,等.多囊肾病的基因治疗进展 [J].中华肾脏病杂志202440(11):905-911.DOI:10.3760/cma.j.cn441217-20240320-00328.
[53]
Zhou CMei CXue C.Preimplantation genetic diagnosis of autosomal dominant polycystic kidney disease applied in China[J].Am J Kidney Dis201872(5):767.DOI:10.1053/j.ajkd.2018.04.017.
[54]
Liu DCheng FPan S,et al.Stem cells:a potential treatment option for kidney diseases[J].Stem Cell Res Ther202011(1):249.DOI:10.1186/s13287-020-01751-2.
[55]
Wang J, Lin Y, Chen X, et al. Mesenchymal stem cells:a new therapeutic tool for chronic kidney disease[J].Front Cell Dev Biol2022(10):910592.DOI:10.3389/fcell.2022.910592.
[1] 许海珠, 李芳, 赵振东. 海南省新生儿希特林蛋白缺乏症筛查及基因突变分析[J/OL]. 中华妇幼临床医学杂志(电子版), 2025, 21(05): 525-533.
[2] 曾琳娜, 瞿宁, 朱洪涛. Majeed综合征1例并文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2025, 21(04): 435-443.
[3] 孙雪明, 郭慧, 刘瀚旻. 远端肾小管酸中毒伴周围神经损伤及疑似髓质海绵肾患儿1例并文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2025, 21(03): 344-349.
[4] 李晓慧, 刘冬蕾, 郑荣浩, 朱松柏, 吴晓林. 1型神经纤维瘤病合并肾病综合征1例并文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2025, 21(02): 211-218.
[5] 张永宏, 徐玉沙, 邓如非, 姜臻宇, 张友来, 邹立津, 辛国华. 非药物干预疗法减轻烧伤患者疼痛的研究进展[J/OL]. 中华损伤与修复杂志(电子版), 2026, 21(02): 127-131.
[6] 李永红, 王骏, 肖恒军. 2025-NCCN前列腺癌诊治指南更新解读[J/OL]. 中华腔镜泌尿外科杂志(电子版), 2025, 19(02): 129-133.
[7] 郭子恒, 王洪, 高浛扉, 伍治强. 以自发性气胸为首发表现的肺肉瘤样癌一例并文献复习[J/OL]. 中华肺部疾病杂志(电子版), 2025, 18(03): 463-466.
[8] 游通, 黄渝茹, 刘英, 罗兴艳, 罗琴. 慢性阻塞性肺疾病缓解期规律与不规律药物使用对疗效的影响分析[J/OL]. 中华肺部疾病杂志(电子版), 2025, 18(02): 321-325.
[9] 石亚超, 魏六木, 东小鸽, 樊海宁, 侯立朝, 杜凯豪, 汪占金, 薛伟伟, 刘海刚, 王展. 肝癌多模式诊断研究进展与展望[J/OL]. 中华肝脏外科手术学电子杂志, 2026, 15(03): 326-336.
[10] 张永明. 脑淋巴系统在神经系统疾病中的研究进展[J/OL]. 中华脑科疾病与康复杂志(电子版), 2025, 15(03): 129-133.
[11] 陈锦, 邱君斓, 陈玲, 徐新运. 卵巢囊性幼年型粒层细胞瘤的影像及病理特征[J/OL]. 中华诊断学电子杂志, 2025, 13(04): 275-279.
[12] 王瑞, 张小杉, 魏颖, 王雅晳. 人工智能赋能心血管影像学在早期筛查与亚临床病变评估中的应用进展[J/OL]. 中华诊断学电子杂志, 2025, 13(03): 153-158.
[13] 孙振晓, 于相芬. 拔毛癖的诊断与治疗研究进展[J/OL]. 中华诊断学电子杂志, 2025, 13(03): 145-152.
[14] 孙振晓, 于相芬. 嗅觉牵连障碍的诊断与治疗研究进展[J/OL]. 中华诊断学电子杂志, 2025, 13(02): 73-78.
[15] 陈俊, 涂鄂文, 王照. 线粒体DNA 多重缺失所致线粒体脑肌病的诊断学特征并文献复习[J/OL]. 中华诊断学电子杂志, 2025, 13(01): 59-64.
阅读次数
全文


摘要


AI


AI小编
你好!我是《中华医学电子期刊资源库》AI小编,有什么可以帮您的吗?