Hopp til hovedinnhold

Polycystisk nyresykdom

Sist revidert:
Sist revidert av:
Definisjon:
Autosomal dominant polycystisk nyresykdom (ADPKD) er karakterisert ved gradvis utvikling av nyrecyster og progressiv nyresvikt
Forekomst:
ADPKD er den hyppigste arvelige nyresykdom. Prevalens ca. 1 per 1000 personer
Symptomer:
Ingen symptomer i barndom og ungdom, etter hvert ev. høyt blodtrykk, magesmerter, hematuri
Funn:
Høyt blodtrykk, ev. patologisk urinsediment. 
Diagnostikk:
Aktuelle undersøkelser er urinstix, kreatinin/eGFR, ultralyd, ev. CT
Behandling:
Blodtrykksbehandling. Symptomatisk behandling av kronisk nyresvikt. Ev. dialyse og nyretransplantasjon. 
  1. Arbejdsgruppe nedsat af Dansk Nefrologisk Selskab. Autosomal dominant polycystisk nyresygdom. Forslag til retningslinjer for patienter og disses slægtninge. Ugeskr Læger 2004; 166: 3807-11. PubMed  
  2. Srivastava A, Patel N. Autosomal dominant polycystic kidney disease. Am Fam Physician. 2014 Sep 1;90(5):303-307. PubMed  
  3. Chapman AB. Cystic disease in women: clinical characteristics and medical management. Adv Ren Replace Ther 2003; 10: 24-30. PubMed  
  4. Grantham JJ, Chapman AB, Torres VE. Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol 2006; 1: 148-57. PubMed  
  5. Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009;76(2):149–168. PMID 19455193
  6. Katre S, Leivestad T, Fauchald P. Aktiv uremibehandling ved autosomal dominant polycystisk nyresykdom. Tidsskr Nor Lægeforen 2000; 120: 1015-9. Tidsskrift for Den norske legeforening  
  7. Demetriou K, Tziakouri C, Anninou Ket al. Autosomal dominant polycystic kidney disease - type 2. Ultrasound, genetic and clinical correlations. Nephrol Dial Transpl 2000; 15: 205-11. PubMed  
  8. Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med 2006; 354: 2122-30. PubMed  
  9. Rosetti S, Burton S, Strmecki L, et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol 2002; 13: 1230. pmid:11961010 PubMed  
  10. Steinman TI. Polycystic kidney disease: a 2011 update. Curr Opin Nephrol Hypertens. 2012;21(2):189–194.
  11. Perrone RD, Malek AM, Watnick T. Vascular complications in autosomal dominant polycystic kidney disease. Nat Rev Nephrol 2015; 11: 589. pmid: 26260542 PubMed  
  12. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359(14):1477–1485.
  13. Kim JA, Blumenfeld JD, Chhabra S, et al. Pancreatic Cysts in Autosomal Dominant Polycystic Kidney Disease: Prevalence and Association with PKD2 Gene Mutations. Radiology 2016; 280: 762. pmid:27046073 PubMed  
  14. Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010;17(2):173–180.
  15. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287–1301.
  16. Bae KT, Sun H, Lee JG, et al. Novel methodology to evaluate renal cysts in polycystic kidney disease. Am J Nephrol 2014; 39: 210-7. pmid:24576800 PubMed  
  17. Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. N Engl J Med 2017; 377: 1930. pmid:29105594 PubMed  
  18. Wüthrich RP, Mei C. Pharmacological management of polycystic kidney disease. Expert Opin Pharmacother 2014; 15: 1085-95. doi:10.1517/14656566.2014.903923 DOI  
  19. James PA, Oparil S, Carter BL, et al. 2014 evidence-based guideline for the management of high blood pressure in adults: report from the panel members appointed to the Eighth Joint National Committee (JNC 8). JAMA. 2014;311(5):507–520.
  20. Patch C, Charlton J, Roderick PJ, Gulliford MC. Use of antihypertensive medications and mortality of patients with autosomal dominant polycystic kidney disease: a population-based study. Am J Kidney Dis. 2011 Jun. 57(6):856-62.
  21. Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT et al. Factors affecting the progression of renal disease in autosomal dominant polycystic kidney disease. Kidney Int 1992; 45: 1311-9. PubMed  
  22. Rozenfeld MN, Ansari SA, Shaibani A, Russell EJ, Mohan P, Hurley MC. Should patients with autosomal dominant polycystic kidney disease be screened for cerebral aneurysms? AJNR Am J Neuroradiol. 2014;35(1):3–9.
  23. Bennett WM. Autosomal dominant polycystic kidney disease: 2009 update for internists. Korean J Intern Med. 2009;24(3):165–168.
  • Ingard Løge, spesialist allmennmedisin, redaktør NEL

Tidligere fagmedarbeidere

  • Tor Erik Widerøe, professor, Norges teknisk-naturvitenskapelige universitet og overlege ved Seksjon for nyresykdommer, St. Olavs Hospital, Trondheim