Skip to main content

Autosomal dominante polyzystische Nierenerkrankung (ADPKD)

  • Living reference work entry
  • Latest version View entry history
  • First Online:
DGIM Innere Medizin

Part of the book series: Springer Reference Medizin ((SRM))

  • 4 Accesses

Zusammenfassung

Die autosomal dominante polyzystische Nierenerkrankung (ADPKD) ist die häufigste hereditäre Nierenerkrankung. Sie ist durch langsames, kontinuierliches Zystenwachstum beider Nieren charakterisiert. Zentrale Folge ist der Verlust der Nierenfunktion und die Notwendigkeit einer Nierenersatztherapie, welche im Mittel in der 6. Lebensdekade erreicht wird. Zusätzlich ist die ADPKD durch zahlreiche extrarenale Manifestationen, sowie lokale Schmerzen und Beschwerden geprägt. Neben supportiven Maßnahmen ist seit 2015 mit Tolvaptan das erste zielgerichtete Medikament zugelassen, das den Verlust der Nierenfunktion verlangsamen, diesen aber ebenso wie die Zystenbildung nicht stoppen oder rückgängig machen kann.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Institutional subscriptions

Literatur

  • Aapkes SE, Bernts LHP, Barten TRM, van den Berg M, Gansevoort RT, Drenth JPH (2021) Estrogens in polycystic liver disease: a target for future therapies? Liver Int 41(9):2009–2019

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ahlhelm FJ (2012) Intracranial aneurysms – a heterogeneous disorder. Radiologe 52(11):977–978

    Article  CAS  PubMed  Google Scholar 

  • Arjune S, Grundmann F, Todorova P et al (2022) Cardiac manifestations in patients with autosomal polycystic kidney disease (ADPKD) – a single-center study. Kidney360 4(2):150–161

    Article  PubMed  PubMed Central  Google Scholar 

  • Barash I, Ponda MP, Goldfarb DS, Skolnik EY (2010) A Pilot clinical study to evaluate changes in urine osmolality and urine cAMP in response to acute and chronic water loading in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 5(4):693–697

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Barrett BJ, Foley R, Morgan J, Hefferton D, Parfrey P (1994) Differences in hormonal and renal vascular responses between normotensive patients with autosomal dominant polycystic kidney disease and unaffected family members. Kidney Int 46(4):1118–1123

    Article  CAS  PubMed  Google Scholar 

  • Beddhu S, Baird BC, Zitterkoph J, Neilson J, Greene T (2009) Physical activity and mortality in chronic kidney disease (NHANES III). Clin J Am Soc Nephrol 4(12):1901–1906

    Article  PubMed  PubMed Central  Google Scholar 

  • Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE (2018) Polycystic kidney disease. Nat Rev Ds Primers 4(1):50

    Article  Google Scholar 

  • Capuano I, Buonanno P, Riccio E, Amicone M, Pisani A (2022) Therapeutic advances in ADPKD: the future awaits. J Nephrol 35(2):397–415

    Article  CAS  PubMed  Google Scholar 

  • Chapman AB, Johnson A, Gabow PA, Schrier RW (1990) The renin-angiotensin-aldosterone system and autosomal dominant polycystic kidney disease. N Engl J Med 323(16):1091–1096

    Article  CAS  PubMed  Google Scholar 

  • Chapman AB, Devuyst O, Eckardt K-U et al (2015) Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 88(1):17–27

    Article  PubMed  PubMed Central  Google Scholar 

  • Chebib FT, Torres VE (2016) Autosomal dominant polycystic kidney disease: core curriculum 2016. Am J Kidney Dis 67(5):792–810

    Article  PubMed  Google Scholar 

  • Chebib FT, Sussman CR, Wang X, Harris PC, Torres VE (2015) Vasopressin and disruption of calcium signalling in polycystic kidney disease. Nat Rev Nephrol 11(8):451–464

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cornec-Le Gall E, Alam A, Perrone RD (2019) Autosomal dominant polycystic kidney disease. Lancet 393(10174):919–935

    Article  PubMed  Google Scholar 

  • Cornec-Le Gall E, Audrezet MP, Rousseau A et al (2016) The PROPKD score: a new algorithm to predict renal survival in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 27(3):942–951

    Article  PubMed  Google Scholar 

  • Cornec-Le Gall E, Olson RJ, Besse W et al (2018) Monoallelic Mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet 102(5):832–844

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Cukoski S, et al (2023) Feasibility and impact of ketogenic dietary interventions in polycystic kidney disease: KETO-ADPKD – a randomized controlled trial. 4(11):101283. https://doi.org/10.1016/j.xcrm.2023.101283

  • Doerr N, Wang Y, Kipp KR et al (2016) Regulation of polycystin-1 function by calmodulin binding. PloS one 11(8):e0161525

    Article  PubMed  PubMed Central  Google Scholar 

  • Ekser B, Rigotti P (2010) Autosomal dominant polycystic kidney disease. N Engl J Med 363(1):71

    Article  CAS  PubMed  Google Scholar 

  • Estruch R, Ros E, Salas-Salvadó J et al (2018) Primary prevention of cardiovascular disease with a mediterranean diet supplemented with extra-virgin olive oil or nuts. N Engl J Med 378(25):e34

    Article  CAS  PubMed  Google Scholar 

  • Flahault A, Trystram D, Nataf F et al (2018) Screening for intracranial aneurysms in autosomal dominant polycystic kidney disease is cost-effective. Kidney Int 93(3):716–726

    Article  PubMed  Google Scholar 

  • Frieden TR, Bloomberg MR (2007) How to prevent 100 million deaths from tobacco. Lancet 369(9574):1758–1761

    Article  PubMed  Google Scholar 

  • Griffiths J, Mills MT, Ong ACM (2020) Long-acting somatostatin analogue treatments in autosomal dominant polycystic kidney disease and polycystic liver disease: a systematic review and meta-analysis. BMJ Open 10(1):e032620

    Article  PubMed  PubMed Central  Google Scholar 

  • Haumann S, Burgmaier K, Bergmann C, Müller RU, Liebau MC (2018) Erbliche Zystennierenerkrankungen: Autosomal dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD). medizinische genetik 30(4):422–428

    Article  Google Scholar 

  • Higashihara E, Horie S, Kinoshita M et al (2018) A potentially crucial role of the PKD1 C-terminal tail in renal prognosis. Clin Exp Nephrol 22(2):395–404

    Article  CAS  PubMed  Google Scholar 

  • Hogan MC, Norby SM (2010) Evaluation and management of pain in autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 17(3):e1–e16

    Article  PubMed  PubMed Central  Google Scholar 

  • Hopp K, Catenacci VA, Dwivedi N et al (2022) Weight loss and cystic disease progression in autosomal dominant polycystic kidney disease. iScience 25(1):103697

    Article  CAS  PubMed  Google Scholar 

  • Irazabal MV, Huston J 3rd, Kubly V et al (2011) Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 6(6):1274–1285

    Article  PubMed  PubMed Central  Google Scholar 

  • Irazabal MV, Rangel LJ, Bergstralh EJ et al (2015) Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol 26(1):160–172

    Article  CAS  PubMed  Google Scholar 

  • Irazabal MV, Abebe KZ, Bae KT et al (2016) Prognostic enrichment design in clinical trials for autosomal dominant polycystic kidney disease: the HALT-PKD clinical trial. Nephrol Dial Transplant 32(11):1857–1865

    PubMed Central  Google Scholar 

  • Itou C, Koizumi J, Hashimoto T et al (2014) Foam sclerotherapy for a symptomatic hepatic cyst: a preliminary report. Cardiovasc Intervent Radiol 37(3):800–804

    Article  PubMed  Google Scholar 

  • Jiang C, Zhou Q, Jin M, Niu J, Gao Y (2019) Congenital hepatic fibrosis with polycystic kidney disease: two case reports. Medicine (Baltimore) 98(20):e15600

    Article  PubMed  Google Scholar 

  • Jouret F, Devuyst O (2020) Targeting chloride transport in autosomal dominant polycystic kidney disease. Cell Signal 73:109703

    Article  CAS  PubMed  Google Scholar 

  • Jouret F, Lhommel R, Devuyst O et al (2012) Diagnosis of cyst infection in patients with autosomal dominant polycystic kidney disease: attributes and limitations of the current modalities. Nephrol Dial Transplant 27(10):3746–3751

    Article  CAS  PubMed  Google Scholar 

  • Kim JA, Blumenfeld JD, Chhabra S et al (2016) Pancreatic cysts in autosomal dominant polycystic kidney disease: prevalence and association with PKD2 gene mutations. Radiology 280(3):762–770

    Article  PubMed  Google Scholar 

  • Kramers BJ, Koorevaar IW, Drenth JPH et al (2020) Salt, but not protein intake, is associated with accelerated disease progression in autosomal dominant polycystic kidney disease. Kidney Int 98(4):989–998

    Article  CAS  PubMed  Google Scholar 

  • Lanktree MB, Chapman AB (2017) New treatment paradigms for ADPKD: moving towards precision medicine. Nat Rev Nephrol 13(12):750–768

    Article  CAS  PubMed  Google Scholar 

  • Lanktree MB, Haghighi A, Guiard E et al (2018) Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. J Am Soc Nephrol 29(10):2593–2600

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y (2021) Insights into autosomal dominant polycystic kidney disease from genetic studies. Clin J Am Soc Nephrol 16(5):790–799

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lefèvre S, Audrézet M-P, Halimi J-M et al (2022) Diagnosis and risk factors for intracranial aneurysms in autosomal polycystic kidney disease: a cross-sectional study from the Genkyst cohort. Nephrol Dial Transplant 37(11):2223–2233

    Article  PubMed  Google Scholar 

  • Luijk F van, Gansevoort RT, Blokzijl H, et al (2022) Multidisciplinary management of chronic refractory pain in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 38(3):618–629. https://doi.org/10.1093/ndt/gfac158

  • Massella L, Mekahli D, Paripović D et al (2018) Prevalence of hypertension in children with early-stage ADPKD. Clin J Am Soc Nephrol 13(6):874–883

    Article  PubMed  PubMed Central  Google Scholar 

  • Miranda Henriques MS de, de Morais Villar EJ (2015) The liver and polycystic kidney disease. In: Li X (Hrsg) Polycystic kidney disease. Codon Publications, Brisbane

    Google Scholar 

  • Müller RU, Benzing T (2018) Cystic kidney diseases from the adult nephrologist’s point of view. Front Pediatr 6:65

    Article  PubMed  PubMed Central  Google Scholar 

  • Müller R-U, Benzing T (2018) Management of autosomal-dominant polycystic kidney disease – state-of-the-art. Clin Kidney J 11(suppl_1):i2–i13

    Article  PubMed  PubMed Central  Google Scholar 

  • Müller RU, Haas CS, Sayer JA (2018) Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. Clin Kidney J 11(1):62–69

    Article  PubMed  Google Scholar 

  • Müller RU, Messchendorp AL, Birn H et al (2022) 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 37(5):825–839

    Article  PubMed  Google Scholar 

  • Oehm S, Steinke K, Schmidt J et al (2022) RESET-PKD: a pilot trial on short-term ketogenic interventions in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 38(7):1623–1635. https://doi.org/10.1093/ndt/gfac311

  • Ong ACM, Harris PC (2015) A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney Int 88(4):699–710

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ong ACM, Torra R (2022) Can ketogenic dietary interventions slow disease progression in ADPKD: what we know and what we don’t. Clin Kidney J 15(6):1034–1036

    Article  PubMed  PubMed Central  Google Scholar 

  • Pei Y, Hwang YH, Conklin J et al (2015) Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol 26(3):746–753

    Article  CAS  PubMed  Google Scholar 

  • Perrone RD, Malek AM, Watnick T (2015) Vascular complications in autosomal dominant polycystic kidney disease. Nat Rev Nephrol 11(10):589–598

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Porath B, Gainullin VG, Cornec-Le Gall E et al (2016) Mutations in GANAB, encoding the glucosidase iialpha subunit, cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet 98(6):1193–1207

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rahbari-Oskoui F, Williams O, Chapman A (2014) Mechanisms and management of hypertension in autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 29(12):2194–2201

    Article  CAS  PubMed  Google Scholar 

  • Rangan GK, Wong ATY, Munt A et al (2022) Prescribed water intake in autosomal dominant polycystic kidney disease. N Engl J Med Evid 1(1). https://doi.org/10.1056/EVIDoa2100021

  • Reiter JF, Leroux MR (2017) Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18(9):533–547

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rowe I, Chiaravalli M, Mannella V et al (2013) Defective glucose metabolism in polycystic kidney disease identifies a new therapeutic strategy. Nat Med 19(4):488–493

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Rydholm S, Zwartz G, Kowalewski JM, Kamali-Zare P, Frisk T, Brismar H (2010) Mechanical properties of primary cilia regulate the response to fluid flow. Am J Physiol Renal Physiol 298(5):F1096–F1102

    Article  CAS  PubMed  Google Scholar 

  • Sasaki M, Katayanagi K, Watanabe K, Takasawa K, Nakanuma Y (2002) Intrahepatic cholangiocarcinoma arising in autosomal dominant polycystic kidney disease. Virchows Arch 441(1):98–100

    Article  PubMed  Google Scholar 

  • Sato Y, Mukai M, Sasaki M et al (2009) Intraductal papillary-mucinous neoplasm of the pancreas associated with polycystic liver and kidney disease. Pathol Int 59(3):201–204

    Article  PubMed  Google Scholar 

  • Schrier RW, Abebe KZ, Perrone RD et al (2014) Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med 371(24):2255–2266

    Article  PubMed  PubMed Central  Google Scholar 

  • Senum SR, Li YM, Benson KA et al (2022) Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype. Am J Hum Genet 109(1):136–156

    Article  CAS  PubMed  Google Scholar 

  • Serafini FM, Carey LC (1999) Adenoma of the ampulla of Vater: a genetic condition? HPB Surg 11(3):191–193

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Sherstha R, McKinley C, Russ P et al (1997) Postmenopausal estrogen therapy selectively stimulates hepatic enlargement in women with autosomal dominant polycystic kidney disease. Hepatology 26(5):1282–1286

    CAS  PubMed  Google Scholar 

  • Silverio A, Prota C, Di Maio M et al (2015) Aortic dissection in patients with autosomal dominant polycystic kidney disease: a series of two cases and a review of the literature. Nephrology (Carlton) 20(4):229–235

    Article  PubMed  Google Scholar 

  • Steele C, Nowak K (2022) Obesity, weight loss, lifestyle interventions, and autosomal dominant polycystic kidney disease. Kidney Dial 2(1):106–122

    Article  PubMed  PubMed Central  Google Scholar 

  • Strubl S, Torres JA, Spindt AK, Pellegrini H, Liebau MC, Weimbs T (2020) STAT signaling in polycystic kidney disease. Cell Signal 72:109639

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Strubl S, Oehm S, Torres JA et al (2022) Ketogenic dietary interventions in autosomal dominant polycystic kidney disease – a retrospective case series study: first insights into feasibility, safety and effects. Clin Kidney J 15(6):1079–1092

    Article  PubMed  Google Scholar 

  • Suwabe T (2020) Cyst infection in autosomal dominant polycystic kidney disease: our experience at Toranomon Hospital and future issues. Clin Exp Nephrol 24(9):748–761

    Article  PubMed  PubMed Central  Google Scholar 

  • Torres JA, Kruger SL, Broderick C et al (2019) Ketosis Ameliorates Renal Cyst Growth in Polycystic Kidney Disease. Cell Metab 30(6):1007–23.e5

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Torres VE (2006) Water for ADPKD? Probably, Yes. J Am Soc Nephrol 17(8):2089–2091

    Article  PubMed  Google Scholar 

  • Torres VE, Wilson DM, Hattery RR, Segura JW (1993) Renal stone disease in autosomal dominant polycystic kidney disease. Am J Kidney Dis 22(4):513–519

    Article  CAS  PubMed  Google Scholar 

  • Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369(9569):1287–1301

    Article  PubMed  Google Scholar 

  • Torres VE, Chapman AB, Devuyst O et al (2012) Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 367(25):2407–2418

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Torres VE, Abebe KZ, Chapman AB et al (2014) Angiotensin blockade in late autosomal dominant polycystic kidney disease. N Engl J Med 371(24):2267–2276

    Article  PubMed  PubMed Central  Google Scholar 

  • Torres VE, Abebe KZ, Schrier RW et al (2017a) Dietary salt restriction is beneficial to the management of autosomal dominant polycystic kidney disease. Kidney Int 91(2):493–500

    Article  CAS  PubMed  Google Scholar 

  • Torres VE, Chapman AB, Devuyst O et al (2017b) Tolvaptan in later-stage autosomal dominant polycystic kidney disease. N Engl J Med 377(20):1930–1942

    Article  CAS  PubMed  Google Scholar 

  • Wang Z, Ng C, Liu X et al (2019) The ion channel function of polycystin-1 in the polycystin-1/polycystin-2 complex. EMBO Rep 20(11):e48336

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Warner G, Hein KZ, Nin V et al (2016) Food restriction ameliorates the development of polycystic kidney disease. J Am Soc Nephrol 27(5):1437–1447

    Article  CAS  PubMed  Google Scholar 

  • Watkins PB, Lewis JH, Kaplowitz N et al (2015) Clinical pattern of tolvaptan-associated liver injury in subjects with autosomal dominant polycystic kidney disease: analysis of clinical trials database. Drug Saf 38(11):1103–1113

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Watnick T, Germino GG (1999) Molecular basis of autosomal dominant polycystic kidney disease. Semin Nephrol 19(4):327–343

    CAS  PubMed  Google Scholar 

  • Weimbs T (2011) Third-hit signaling in renal cyst formation. J Am Soc Nephrol 22(5):793–795

    Article  PubMed  Google Scholar 

  • Wijnands TF, Schoenemeier B, Potthoff A et al (2018) Ethanol sclerotherapy or polidocanol sclerotherapy for symptomatic hepatic cysts. United European Gastroenterol J 6(6):919–925

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Wilkinson DA, Heung M, Deol A et al (2019) Cerebral aneurysms in autosomal dominant polycystic kidney disease: a comparison of management approaches. Neurosurgery 84(6):E352–EE61

    Article  PubMed  Google Scholar 

  • Xu HW, Yu SQ, Mei CL, Li MH (2011) Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease. Stroke 42(1):204–206

    Article  CAS  PubMed  Google Scholar 

  • Zimmerman KA, Hopp K, Mrug M (2020) Role of chemokines, innate and adaptive immunity. Cell Signal 73:109647

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Roman-Ulrich Müller .

Editor information

Editors and Affiliations

Section Editor information

Rights and permissions

Reprints and permissions

Copyright information

© 2024 Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Arjune, S., Strubl, S., Müller, RU. (2024). Autosomal dominante polyzystische Nierenerkrankung (ADPKD). In: Lehnert, H., Märker-Hermann, E., Marx, N., Meyhöfer, S.M. (eds) DGIM Innere Medizin. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54676-1_63-2

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-54676-1_63-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-54676-1

  • Online ISBN: 978-3-642-54676-1

  • eBook Packages: Springer Referenz Medizin

Publish with us

Policies and ethics

Chapter history

  1. Latest

    Autosomal dominante polyzystische Nierenerkrankung (ADPKD)
    Published:
    27 December 2023

    DOI: https://doi.org/10.1007/978-3-642-54676-1_63-2

  2. Original

    Autosomal dominante polyzystische Nierenerkrankung (ADPKD)
    Published:
    25 November 2014

    DOI: https://doi.org/10.1007/978-3-642-54676-1_63-1