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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. 
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  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