Polycystic Kidney Disease Questions & Answers

1. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019 Mar 2. 393 (10174):919-935. [QxMD MEDLINE Link].

2. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006 May 18. 354(20):2122-30. [QxMD MEDLINE Link]. [Full Text].

3. Schrier RW, Abebe KZ, Perrone RD, Torres VE, Braun WE, Steinman TI, et al. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2014 Dec 11. 371 (24):2255-66. [QxMD MEDLINE Link].

4. Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009 Jan. 20(1):205-12. [QxMD MEDLINE Link]. [Full Text].

5. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, Harris T, Horie S, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015 Jul. 88 (1):17-27. [QxMD MEDLINE Link]. [Full Text].

6. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 1994 Apr 2. 343(8901):824-7. [QxMD MEDLINE Link].

7. Irazabal MV, Huston J 3rd, Kubly V, Rossetti S, Sundsbak JL, Hogan MC, et al. Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2011 Jun. 6(6):1274-85. [QxMD MEDLINE Link]. [Full Text].

8. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009 Jul. 76 (2):149-68. [QxMD MEDLINE Link]. [Full Text].

9. Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG. A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1. Nat Med. 2007 Dec. 13 (12):1490-5. [QxMD MEDLINE Link].

10. Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, et al. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2. 98 (6):1193-207. [QxMD MEDLINE Link].

11. Huynh VT, Audrézet MP, Sayer JA, et al. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney Int. 2020 Aug. 98 (2):476-487. [QxMD MEDLINE Link].

12. Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, et al. ALG9 Mutation Carriers Develop Kidney and Liver Cysts. J Am Soc Nephrol. 2019 Nov. 30 (11):2091-2102. [QxMD MEDLINE Link].

13. Schönauer R, Baatz S, Nemitz-Kliemchen M, Frank V, Petzold F, Sewerin S, et al. Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes. Genet Med. 2020 Aug. 22 (8):1374-1383. [QxMD MEDLINE Link]. [Full Text].

14. Boca M, D'Amato L, Distefano G, Polishchuk RS, Germino GG, Boletta A. Polycystin-1 induces cell migration by regulating phosphatidylinositol 3-kinase-dependent cytoskeletal rearrangements and GSK3beta-dependent cell cell mechanical adhesion. Mol Biol Cell. 2007 Oct. 18 (10):4050-61. [QxMD MEDLINE Link].

15. Torres VE. Vasopressin antagonists in polycystic kidney disease. Kidney Int. 2005 Nov. 68(5):2405-18. [QxMD MEDLINE Link]. [Full Text].

16. Ong AC, Wheatley DN. Polycystic kidney disease--the ciliary connection. Lancet. 2003 Mar 1. 361(9359):774-6. [QxMD MEDLINE Link].

17. Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 2013 May. 24 (6):1006-13. [QxMD MEDLINE Link].

18. Akoh JA. Current management of autosomal dominant polycystic kidney disease. World J Nephrol. 2015 Sep 6. 4 (4):468-79. [QxMD MEDLINE Link].

19. Cornec-Le Gall E, Audrézet MP, Rousseau A, et al. The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2016 Mar. 27 (3):942-51. [QxMD MEDLINE Link]. [Full Text].

20. Hateboer N, v Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999 Jan 9. 353(9147):103-7. [QxMD MEDLINE Link].

21. Furlano M, Loscos I, Martí T, Bullich G, Ayasreh N, Rius A, et al. Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression. Am J Nephrol. 2018. 48 (4):308-317. [QxMD MEDLINE Link].

22. Müller RU 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. Nephrol Dial Transplant. 2022 Apr 25. 37 (5):825-839. [QxMD MEDLINE Link].

23. Baker A, King D, Marsh J, Makin A, Carr A, Davis C, et al. Understanding the physical and emotional impact of early-stage ADPKD: experiences and perspectives of patients and physicians. Clin Kidney J. 2015 Oct. 8 (5):531-7. [QxMD MEDLINE Link]. [Full Text].

24. Irazabal MV, Abebe KZ, Bae KT, Perrone RD, Chapman AB, Schrier RW, et al. Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial. Nephrol Dial Transplant. 2017 Nov 1. 32 (11):1857-1865. [QxMD MEDLINE Link].

25. Martínez V, Furlano M, et. al and participants in the REPQRAD. Autosomal dominant polycystic kidney disease in young adults. Clin Kidney J. 2023 Jun. 16 (6):985-995. [QxMD MEDLINE Link].

26. Huston J 3rd, Torres VE, Wiebers DO, et al. Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography. J Am Soc Nephrol. 1996 Oct. 7(10):2135-41. [QxMD MEDLINE Link].

27. Ars E, Bernis C, Fraga G, Furlano M, Martínez V, Martins J, et al. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020. Nefrologia (Engl Ed). 2022 Jul-Aug. 42 (4):367-389. [QxMD MEDLINE Link].

28. HNF1B gene. MedLine Plus. Available at https://medlineplus.gov/genetics/gene/hnf1b/. July 1, 2020; Accessed: August 15, 2023.

29. Chauveau D, Pirson Y, Verellen-Dumoulin C, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. Kidney Int. 1994 Apr. 45(4):1140-6. [QxMD MEDLINE Link].

30. Spithoven EM, van Gastel MD, Messchendorp AL, Casteleijn NF, Drenth JP, Gaillard CA, et al. Estimation of total kidney volume in autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2015 Nov. 66 (5):792-801. [QxMD MEDLINE Link].

31. Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, et al. Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. Nephrol Dial Transplant. 2022 Mar 25. 37 (4):687-696. [QxMD MEDLINE Link].

32. Chebib FT, Perrone RD, Chapman AB, Dahl NK, Harris PC, Mrug M, et al. A Practical Guide for Treatment of Rapidly Progressive ADPKD with Tolvaptan. J Am Soc Nephrol. 2018 Oct. 29 (10):2458-2470. [QxMD MEDLINE Link].

33. Ketteler M, Block GA, Evenepoel P, Fukagawa M, Herzog CA, McCann L, et al. Executive summary of the 2017 KDIGO Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) Guideline Update: what's changed and why it matters. Kidney Int. 2017 Jul. 92 (1):26-36. [QxMD MEDLINE Link].

34. Rozenfeld MN, Ansari SA, Mohan P, Shaibani A, Russell EJ, Hurley MC. Autosomal Dominant Polycystic Kidney Disease and Intracranial Aneurysms: Is There an Increased Risk of Treatment?. AJNR Am J Neuroradiol. 2015 Sep 3. [QxMD MEDLINE Link].

35. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Koch G, et al. Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. N Engl J Med. 2017 Nov 16. 377 (20):1930-1942. [QxMD MEDLINE Link].

36. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Dandurand A, et al. Multicenter, open-label, extension trial to evaluate the long-term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial. Nephrol Dial Transplant. 2018 Mar 1. 33 (3):477-489. [QxMD MEDLINE Link].

37. Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012 Dec 20. 367 (25):2407-18. [QxMD MEDLINE Link].

38. Perrone RD, Abebe KZ, Watnick TJ, Althouse AD, Hallows KR, Lalama CM, et al. Primary results of the randomized trial of metformin administration in polycystic kidney disease (TAME PKD). Kidney Int. 2021 Sep. 100 (3):684-696. [QxMD MEDLINE Link].

39. Ong ACM, Gansevoort RT. TAMEing ADPKD with metformin: safe and effective?. Kidney Int. 2021 Sep. 100 (3):513-515. [QxMD MEDLINE Link].

40. Suwabe T, Barrera FJ, Rodriguez-Gutierrez R, Ubara Y, Hogan MC. Somatostatin analog therapy effectiveness on the progression of polycystic kidney and liver disease: A systematic review and meta-analysis of randomized clinical trials. PLoS One. 2021. 16 (9):e0257606. [QxMD MEDLINE Link]. [Full Text].

41. Leonhard WN, Song X, Kanhai AA, Iliuta IA, Bozovic A, Steinberg GR, et al. Salsalate, but not metformin or canagliflozin, slows kidney cyst growth in an adult-onset mouse model of polycystic kidney disease. EBioMedicine. 2019 Sep. 47:436-445. [QxMD MEDLINE Link]. [Full Text].

42. Winterbottom J, Simms RJ, Caroli A, Gall EC, Demoulin N, Furlano M, et al. Flank pain has a significant adverse impact on quality of life in ADPKD: the CYSTic-QoL study. Clin Kidney J. 2022 Nov. 15 (11):2063-2071. [QxMD MEDLINE Link].

43. Russell RT, Pinson CW. Surgical management of polycystic liver disease. World J Gastroenterol. 2007 Oct 14. 13(38):5052-9. [QxMD MEDLINE Link].

44. Sallee M, Rafat C, Zahar JR, et al. Cyst infections in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2009 Jul. 4(7):1183-9. [QxMD MEDLINE Link]. [Full Text].

45. [Guideline] Soroka S, Alam A, Bevilacqua M, Girard LP, Komenda P, Loertscher R, et al. Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease. Can J Kidney Health Dis. 2018. 5:2054358118801589. [QxMD MEDLINE Link]. [Full Text].

46. Amro OW, Paulus JK, Noubary F, Perrone RD. Low-Osmolar Diet and Adjusted Water Intake for Vasopressin Reduction in Autosomal Dominant Polycystic Kidney Disease: A Pilot Randomized Controlled Trial. Am J Kidney Dis. 2016 Dec. 68 (6):882-891. [QxMD MEDLINE Link]. [Full Text].

47. [Guideline] Ars E, Bernis C, Fraga G, Furlano M, Martínez V, Martins J, et al. Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020. Nefrologia (Engl Ed). 2022 Jul-Aug. 42 (4):367-389. [QxMD MEDLINE Link]. [Full Text].

48. [Guideline] Kidney Health Australia. KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline. CARI Guidelines. Available at https://www.cariguidelines.org/guidelines/chronic-kidney-disease/autosomal-dominant-polycystic-kidney-disease/. November 2015; Accessed: August 15, 2023.

49. [Guideline] Dudley J, Winyard P, Marlais M, et al. Clinical Practice Guideline Monitoring children and young people with, or at risk of developing Autosomal Dominant Polycystic Kidney Disease (ADPKD). The Renal Association. Available at https://ukkidney.org/sites/renal.org/files/radar/FINAL-ADPKD-Guideline.pdf. November 2018; Accessed: August 15, 2023.

50. [Guideline] Gimpel C, et.al. International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol. 2019 Nov. 15 (11):713-726. [QxMD MEDLINE Link]. [Full Text].

Mónica Furlano, MD, PhD Associate Clinical Professor, Facultad de Medicina, Universitat Autonoma de Barcelona; Staff Nephrologist, Puigver Foundation, Spain

Mónica Furlano, MD, PhD is a member of the following medical societies: Catalan Society of Nephrology, European Renal Association, Gene & Kidney ERA Working Group, Spanish Society of Nephrology

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George R Aronoff, MD Director, Professor, Departments of Internal Medicine and Pharmacology, Section of Nephrology, Kidney Disease Program, University of Louisville School of Medicine

George R Aronoff, MD is a member of the following medical societies: American Federation for Medical Research, American Society of Nephrology, Kentucky Medical Association, National Kidney Foundation

Disclosure: Nothing to disclose.

Vecihi Batuman, MD, FASN Professor of Medicine, Section of Nephrology-Hypertension, Deming Department of Medicine, Tulane University School of Medicine

Vecihi Batuman, MD, FASN is a member of the following medical societies: American College of Physicians, American Society of Hypertension, American Society of Nephrology, Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

Laura Lyngby Mulloy, DO, FACP Professor of Medicine, Chief, Section of Nephrology, Hypertension, and Transplantation Medicine, Glover/Mealing Eminent Scholar Chair in Immunology, Medical College of Georgia, Georgia Regents University

Disclosure: Nothing to disclose.

Roser Torra, MD, PhD Consulting Staff, Hereditary Renal Diseases, Department of Nephrology, Fundacio Puigvert, Spain

Roser Torra, MD, PhD is a member of the following medical societies: American Society of Nephrology, International Society of Nephrology

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article