Zusammenfassung
Die autosomal dominante polyzystische Nierenerkrankung ist eine monogenetische Nierenerkrankung, die in der Regel in der zweiten bis dritten Lebensdekade beginnt, typischerweise aber erst nach dem 40–50. Lebensjahr durch Schmerzen, welche durch das Zystenwachstum und -rupturen verursacht werden, Hypertonie und zunehmender Nierenfunktionsstörung in Erscheinung tritt. Die Kombination von stark vergrößerten Nieren mit multiplen beidseitigen Zysten unterschiedlicher Größe, Zysten in anderen Organen insbesondere der Leber in Verbindung mit einer eingeschränkten Nierenfunktion und einer positiven Familienanamnese sind praktisch diagnostisch für diese Erkrankung.
Literatur
Barr MM et al (2001) The Caenorhabditis elegans autosomal dominant polycystic kidney disease gene homologs lov-1 and pkd-2 act in the same pathway. Curr Biol 11:1341–1346
Boehlke C et al (2010) Primary cilia regulate mTORC1 activity and cell size through Lkb1. Nat Cell Biol 12:1115–1122
Brisman JL, Song JK, Newell DW (2006) Cerebral aneurysms. N Engl J Med 355:928–939
Chapman AB et al (2012) Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 7:479–486
Gevers TJ, Chrispijn M, Wetzels JF, Drenth JP (2012) Rationale and design of the RESOLVE trial: lanreotide as a volume reducing treatment for polycystic livers in patients with autosomal dominant polycystic kidney disease. BMC Nephrol 13:17
Grantham JJ, Ye M, Davidow C, Holub B, Sharma M (1995) Evidence for a potent lipid secretagogue in the cyst fluids of patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 6:1242–1249
Grantham JJ et al (2006) Volume progression in polycystic kidney disease. N Engl J Med 354:2122–2130
Haseebuddin M et al (2012) Long-term impact of laparoscopic cyst decortication on renal function, hypertension and pain control in patients with autosomal dominant polycystic kidney disease. J Urol 188:1239–1244
Helal I et al (2011) Glomerular hyperfiltration and renal progression in children with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol 6:2439–2443
Helal I et al (2012) Prevalence of cardiovascular events in patients with autosomal dominant polycystic kidney disease. Am J Nephrol 36:362–370
Hildebrandt F, Benzing T, Katsanis N (2011) Ciliopathies. N Engl J Med 364:1533–1543
Hogan MC et al (2012) Somatostatin analog therapy for severe polycystic liver disease: results after 2 years. Nephrol Dial Transplant 27:3532–3539
Ibraghimov-Beskrovnaya O, Natoli TA (2011) mTOR signaling in polycystic kidney disease. Trends Mol Med 17:625–633
Mangoo-Karim R, Uchic M, Lechene C, Grantham JJ (1989) Renal epithelial cyst formation and enlargement in vitro: dependence on cAMP. Proc Natl Acad Sci USA 86:6007–6011
Millar MB et al (2013) Surgical Cyst Decortication in Autosomal Dominant Polycystic Kidney Disease. J Endourol 27:528–534
Neumann HP et al (2012) Characteristics of intracranial aneurysms in the else kroner-fresenius registry of autosomal dominant polycystic kidney disease. Cerebrovasc Dis Extra 2:71–79
Pei Y et al (2009) Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 20:205–212
Pirson Y, Chauveau D, Torres V (2002) Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 13:269–276
Shillingford JM et al (2006) The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Proc Natl Acad Sci USA 103:5466–5471
Torres VE et al (2012a) Analysis of baseline parameters in the HALT polycystic kidney disease trials. Kidney Int 81:577–585
Torres VE, Harris PC, Pirson Y (2007) Autosomal dominant polycystic kidney disease. Lancet 369:1287–1301
Torres VE et al (2012b) Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease. N Engl J Med 367:2407–2418
Watnick T, Germino GG (1999) Molecular basis of autosomal dominant polycystic kidney disease. Semin Nephrol 19:327–343
Yoder BK, Hou X, Guay-Woodford LM (2002) The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol 13:2508–2516
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2014 Springer-Verlag Berlin Heidelberg
About this entry
Cite this entry
Walz, G. (2014). Autosomal dominante polyzystische Nierenerkrankung (ADPKD). In: Lehnert, H. (eds) SpringerReference Innere Medizin. SpringerReference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-54676-1_63-1
Download citation
DOI: https://doi.org/10.1007/978-3-642-54676-1_63-1
Received:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Online ISBN: 978-3-642-54676-1
eBook Packages: Springer Referenz Medizin
Publish with us
Chapter history
-
Latest
Autosomal dominante polyzystische Nierenerkrankung (ADPKD)- Published:
- 27 December 2023
DOI: https://doi.org/10.1007/978-3-642-54676-1_63-2
-
Original
Autosomal dominante polyzystische Nierenerkrankung (ADPKD)- Published:
- 25 November 2014
DOI: https://doi.org/10.1007/978-3-642-54676-1_63-1