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polycystic kidney disease

Etiology: 1) inherited disease a) see adult & childhood polycystic kidney disease b) von Hippel-Lindau disease (autosomal dominant) 2) acquired renal cystic disease a) associated with long-term renal insufficiency b) can affect up to 50% of patients on long-term dialysis Epidemiology: - autosomal dominant polycystic kidney disease is the most common inherited kidney disorder [2]; 5% of ESRD cases Pathology: - polycystic kidney disease affecting the kidneys & the hepatic biliary Genetics: - autosomal dominant forms: defects in PKHD1 & PKHD2 [2] - defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease Clinical manifestations: 1) clinical spectrum is widely variable 2) most cases present during infancy 3) hypertension at a young age 4) flank pain 5) gross hematuria 6) palplable irregular kidneys or liver - polycystic liver disease in 80-90% [8] 7) nephrolithiasis Laboratory: - urinalysis: - hematuria - proteinuria (low grade) - genotyping not routinely performed [2] Radiology: 1) renal ultrasound will identify renal cysts a) enlarged kidneys with autosomal dominant form b) complete ultrasound of abdomen - screen for hepatic involvement in autosomal dominant form 2) complete ultrasound of the abdomen to screen for polycystic liver disease [8] 2) routine screening for intracranial aneurysm not indicated 3) MR angiography vs CT angiography if family history consistent with ruptured cerebral aneurysm [2,4] - offer for autosomal dominant form regardless of family history [2] - not so [8] - caution with use of gadolinium contrast in patients with severe renal impairment Differential diagnosis: - rupture of renal cyst can mimic nephrolithiasis Complications: 1) subarachnoid hemorrhage from intracranial aneurysm* 2) renal cysts are prone to hemorrhage in patients with autosomal dominant polycystic kidney disease [2] 3) cyst infection [2,3] 4) increased risk for multiple cancers [6] - kidney cancer (RR=2.5) - 30-fold increased risk of renal cell carcinoma with acquired form [2] - flank pain, hematuria, erythrocytosis (high blood hemoglobin) - colon cancer (RR=1.6) - liver cancer (RR=1.5). 5) mitral valve prolapse* [2] 6) hepatic cysts* 7) diverticulosis* 8) cardiovascular disease as type-of chronic kidney disease [8] * autosomal dominant forms [2] * autosomal recessive forms associated with pediatric ESRD, hepatic fibrosis, portal hypertension, pulmonary hypoplasia, oligohydramnios, Potter syndrome Management: 1) ACE inhibitor or ARB for hypertension if renal function permits - target blood pressure is < 130/80 mm Hg 2) tolvaptan delays progression of renal failure in rapidly progressive autosomal dominant forms [2] 3) empiric antibiotic therapy for suspected infected cysts a) fluoroquinolone b) trimethoprim/sufamethazole (Bactrim, Septra) 4) avoid NSAIDs, aspirin [7] 5) partial nephrectomy for cysts suspicious for malignancy - radical nephrectomy if ESRD [2] 6) treatment of cardiovascular risk factors - statins [8] 7) no specific therapy for autosomal recessive form [2]

Interactions

disease interactions

Specific

acquired polycystic kidney disease adult polycystic kidney disease; autosomal dominant polycystic kidney disease childhood polycystic kidney disease infantile polycystic kidney disease (autosomal recessive) medullary cystic kidney disease medullary sponge kidney disease nephronophthisis

General

chronic kidney disease (CKD)

References

  1. Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 613-14
  2. Medical Knowledge Self Assessment Program (MKSAP) 11, 14, 16, 17, 18, 19. American College of Physicians, Philadelphia 1998, 2006, 2012, 2015, 2018, 2021. - Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022
  3. Sallee M, Rafat C, Zahar JR, Paulmier B et al Cyst infections in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. 2009 Jul;4(7):1183-9. PMID: 19470662
  4. Pirson Y. Extrarenal manifestations of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis. 2010 Mar;17(2):173-80 PMID: 20219620
  5. Singanamala S, Brewster UC. Should screening for acquired cystic disease and renal malignancy be undertaken in dialysis patients? Semin Dial. 2011 Jul-Aug;24(4):365-6. PMID: 21851390
  6. Yu TM, Chuang YW, Yu MC et al Risk of cancer in patients with polycystic kidney disease: a propensity-score matched analysis of a nationwide, population- based cohort study. The Lancet Oncology. Online First. August 2016 PMID: 27550645 http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(16)30250-9/fulltext - Chapman JR, Wong G Cancer in patients with inherited ciliopathies: polycystic kidney disease. The Lancet Oncology. Online First. August 2016 PMID: 27550647 http://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(16)30307-2/fulltext
  7. Palmer SC Effects of Antiplatelet Therapy on Mortality and Cardiovascular and Bleeding Outcomes in Persons With Chronic Kidney Disease: A Systematic Review and Meta-analysis Ann Intern Med March 20, 2012 156:445-459 PMID: 22431677
  8. NEJM Knowledge+ Nephrology/Urology
  9. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Polycystic Kidney Disease (PKD) https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease