Journal of Diagnostics Concepts & Practice >

2025 , Vol. 24 >Issue 03: 255 - 262

DOI: https://doi.org/10.16150/j.1671-2870.2025.03.003

Guideline interpretation

Interpretation of key points in 2025 KDIGO Clinical Practice Guideline for the Evaluation，Management，and Treatment of Autosomal Dominant Polycystic Kidney Disease

  • WU Shuangcheng ,
  • YU Shengqiang
Expand
  • Department of Nephrology, Second Affiliated Hospital of Naval Medical University, Shanghai 200003, China

Received date: 2025-01-08

  Accepted date: 2025-04-08

  Online published: 2025-06-25

Fold

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

Cite this article

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 . DOI: 10.16150/j.1671-2870.2025.03.003

References

[1] BERGMANN C, GUAY-WOODFORD L M, HARRIS P C, et al. Polycystic kidney disease[J]. Nat Rev Dis Primers, 2018, 4(1):50.
[2] CORNEC-LE GALL E, ALAM A, PERRONE R D. Autosomal dominant polycystic kidney disease[J]. Lancet, 2019, 393(10174):919-935.
[3] Kidney Disease: Improving Global Outcomes (KDIGO) ADPKD Work Group. KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD)[J]. Kidney Int, 2025, 107(2S):S1-S239.
[4] TRUJILLANO D, BULLICH G, OSSOWSKI S, et al. Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing[J]. Mol Genet Genomic Med, 2014, 2(5):412-421.
[5] GROOPMAN E E, MARASA M, CAMERON-CHRISTIE S, et al. Diagnostic utility of exome sequencing for kidney disease[J]. N Engl J Med, 2019, 380(2):142-151.
[6] STENSON P D, MORT M, BALL E V, et al. The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine[J]. Hum Genet, 2014, 133(1):1-9.
[7] RICHARDS S, AZIZ N, BALE S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J[. Genet Med, 2015, 17(5):405-424.
[8] CORNEC-LE GALL E, AUDRéZET M P, CHEN J M, et al. Type of PKD1 mutation influences renal outcome in ADPKD[J]. J Am Soc Nephrol, 2013, 24(6):1006-1013.
[9] LANKTREE M B, GUIARD E, AKBARI P, et al. Patients with protein-truncating PKD1 mutations and mild ADPKD[J]. Clin J Am Soc Nephrol, 2021, 16(3):374-383.
[10] HARRIS P C, ROSSETTI S. Molecular diagnostics for autosomal dominant polycystic kidney disease[J]. Nat Rev Nephrol, 2010, 6(4):197-206.
[11] 中华医学会医学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, 2020, 37(3):277-283.
  Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases, Medical Genetics Branch of Chinese Medical Association. Clinical practice guidelines for polycystic kidney diseases[J]. Chin J Med Genet, 2020, 37(3):277-283.
[12] SUN Q, XU P, MAO A, et al. Targeted long-read sequen-cing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis[J]. NPJ Genom Med, 2025, 10(1):22.
[13] LINDEMANN C H, WENZEL A, ERGER F, et al. A low-cost sequencing platform for rapid genotyping in ADPKD and its impact on clinical care[J]. Kidney Int Rep, 2022, 8(3):455-466.
[14] IRAZABAL M V, RANGEL L J, BERGSTRALH E J, et al. Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials[J]. J Am Soc Nephrol, 2015, 26(1):160-172.
[15] CORNEC-LE GALL E, AUDRéZET M P, ROUSSEAU A, et al. The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease[J]. J Am Soc Nephrol, 2016, 27(3):942-951.
[16] MüLLER R U, MESSCHENDORP A L, BIRN H, et al. An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International[J]. Nephrol Dial Transplant, 2022, 37(5):825-839.
[17] GRANTHAM J J, TORRES V E, CHAPMAN A B, et al. Volume progression in polycystic kidney disease[J]. N Engl J Med, 2006, 354(20):2122-2130.
[18] 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 Int, 2021, 99(3S):S1-S87.
[19] 刘雯瑜, 吴双成, 张天琛, 等. 米扎格列净通过抑制钠-葡萄糖共转运体1的功能抑制常染色体显性多囊肾细胞增殖和纤维化[J]. 海军军医大学学报, 2024, 45(11):1343-1351.
  LIU WY, WU SC, ZHANG TC, et al. Mizagliflozin inhibits proliferation and fibrosis of autosomal dominant polycystic kidney cells by inhibiting function of sodium-glucose cotransporter 1[J]. Acad J Nav Med Univ, 2024, 45(11):1343-1351.
[20] SPRINT Research Group, WRIGHT J T JR, WILLIAMSON J D, et al. A randomized trial of intensive versus standard blood-pressure control[J]. N Engl J Med, 2015, 373(22):2103-2116.
[21] MARESCA G, ROYLE J, DONALDSON J F. Tranexamic acid-induced ureteric clot obstruction in a patient with urothelial cell carcinoma resulting in upper urinary tract perforation[J]. BMJ Case Rep, 2022, 15(1):e247334.
[22] MARIOTTI V, FIOROTTO R, CADAMURO M, et al. New insights on the role of vascular endothelial growth factor in biliary pathophysiology[J]. JHEP Rep, 2021, 3(3):100251.
[23] YAP D Y H, MCMAHON L P, HAO C M, et al. Recommendations by the Asian Pacific society of nephrology (APSN) on the appropriate use of HIF-PH inhibitors[J]. Nephrology (Carlton), 2021, 26(2):105-118.
[24] KAPOOR S, RODRIGUEZ D, RIWANTO M, et al. Effect of sodium-glucose cotransport inhibition on polycystic kidney disease progression in PCK rats[J]. PLoS One, 2015, 10(4):e0125603.
[25] WANNER C, TONELLI M, Kidney Disease: Improving Global Outcomes Lipid Guideline Development Work Group Members. KDIGO clinical practice guideline for lipid management in CKD: summary of recommendation statements and clinical approach to the patient[J]. Kidney Int, 2014, 85(6):1303-1309.
[26] Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2024 clinical practice guideline for the evaluation and management of chronic kidney disease[J]. Kidney Int, 2024, 105(4S):S117-S314.
[27] REIF G A, YAMAGUCHI T, NIVENS E, et al. Tolvaptan inhibits ERK-dependent cell proliferation, Cl- secretion, and in vitro cyst growth of human ADPKD cells stimulated by vasopressin[J]. Am J Physiol Renal Physiol, 2011, 301(5):F1005-F1013.
[28] TORRES V E, CHAPMAN A B, DEVUYST O, et al. Tolvaptan in later-stage autosomal dominant polycystic kidney disease[J]. N Engl J Med, 2017, 377(20):1930-1942.
[29] CHEBIB F T, ZHOU X, GARBINSKY D, et al. Tolvaptan and kidney function decline in older individuals with autosomal dominant polycystic kidney disease: A pooled analysis of randomized clinical trials and observational studies[J]. Kidney Med, 2023, 5(6):100639.
[30] TORRES V E, CHAPMAN A B, DEVUYST O, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease[J]. N Engl J Med, 2012, 367(25):2407-2418.
[31] TORRES V E, CHAPMAN A B, DEVUYST O, et al. Multicenter study of long-term safety of tolvaptan in later-stage autosomal dominant polycystic kidney disease[J]. Clin J Am Soc Nephrol, 2020, 16(1):48-58.
[32] DEVUYST O, CHAPMAN A B, GANSEVOORT R T, et al. Urine osmolality, response to tolvaptan, and outcome in autosomal dominant polycystic kidney disease: results from the TEMPO 3:4 trial[J]. J Am Soc Nephrol, 2017, 28(5):1592-1602.
[33] GANSEVOORT R T, VAN GASTEL M D A, CHAPMAN A B, et al. Plasma copeptin levels predict disease progression and tolvaptan efficacy in autosomal dominant polycystic kidney disease[J]. Kidney Int, 2019, 96(1):159-169.
[34] 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, 2022, 38(7):644-652.
  Expert group on the treatment of rapidly progressive autosomal dominant polycystic kidney disease with tolvaptan. Chinese expert consensus for treatment of rapidly progressive autosomal dominant polycystic kidney disease with tolvaptan[J]. Chin J Nephrol, 2022, 38(7):644-652.
[35] WANG C J, GRANTHAM J J, WETMORE J B. The medicinal use of water in renal disease[J]. Kidney Int, 2013, 84(1):45-53.
[36] EL-DAMANAWI R, HARRIS T, SANDFORD R N, et al. Patient survey of current water intake practices in autosomal dominant polycystic kidney disease: the SIPs survey[J]. Clin Kidney J, 2017, 10(3):305-309.
[37] RANGAN G K, WONG A T Y, MUNT A, et al. Prescribed water intake in autosomal dominant polycystic kidney disease[J]. NEJM Evid, 2022, 1(1):EVIDoa2100021.
Options
Outlines

/

〈 〉