adult polycystic kidney disease; autosomal dominant polycystic kidney disease
Jump to navigation
Jump to search
Epidemiology
- 1 in 500 autopsies
- 1 in 3000 hospital admissions
- accounts for 10% of end-stage renal failure
- most common hereditary renal disease
- 75% of patients have a positive family history*
* thus lack of family history does not exclude diagnosis[3]
Pathology
- cortex & medulla of both kidneys are generally filled with thin-walled spherical cysts, a few millimeters to centimeters in diameter
- cysts arise from outpouchings of renal tubule & Bowman's space
- cysts grow from birth
- the cysts enlarge the kidneys & interfere with function by compressing the nephrons & causing local destruction
- cysts are lined with cuboidal epithelium
- cysts may become hemorrhagic with trauma or infection
- renal parenchyma may be normal or may show nephrosclerosis of interstitial nephritis
- hepatic cysts occur in 30% of patients
- hepatic function generally normal
- more common in women
- cysts may also occur in the spleen, pancreas, lungs, ovary, testes, epididymis, thyroid, uterus, broad ligament & bladder
- associated anomalies
Genetics
- autosomal dominant inheritance (90% of polycystic kidney disease)
- defects in PKD1 (type 1) short arm of chromosome 16 (85%)
- defects in PKD2, mutation on chromosome 4 (15%)
* mutational analysis reserved for equivocal cases following imaging[3]
Clinical manifestations
- symptoms generally begin during the 3rd to 4th decade of life
- chronic flank pain vs chronic abdominal pain[3]
- gross & microscopic hematuria, especially after trauma
- nocturia due to impaired concentrating ability
- nephrolithiasis: 10% of patients pass renal calculi
- kidneys are generally palpable & asymmetric with a knobby surface
- other palpable abdominal masses may also occur[3]
- hypertension in 75% of patients
- progression to chronic renal failure is common
- subarachnoid hemorrhage from intracranial aneurysm in 10%
- increased incidence of mitral valve prolapse (25%), mitral valve, aortic valve & tricuspid valve incompetence
- disease associations:
- diverticulosis
- cardiac valve myxomatous degeneration
- intracranial aneurysms
- hypertension
Laboratory
- urinalysis & 24 hour urine
- proteinuria rarely exceeds 2 g/day
- hematuria may occur with
- hemorrhage into a cyst
- renal stone
- malignancy
- urate & oxalate stones are common
- urinary tract infections are common
- infected cysts may not be associated with abnormal urinalysis or urine culture[3][4]
- complete blood count (CBC)
- erythrocytosis may occur secondary to elevated erythropoietin
- anemia may occur secondary to hematuria
Radiology
- complete abdominal ultrasound
- computed tomography abdomen
- radioisotopic renal scan (localization of UTI)
- retrograde urography
- intravenous pyelogram
- magnetic resonance angiography only if
- personal or family history of cerebral hemorrhage or subarachnoid hemorrhage
- family history of intracranial aneurysm[3]
- high risk occupation where rupture of cerebral aneurysm would affect lives of others[3]
- should be offered to all patients[3]
Complications
- acute renal failure
- renal cyst infection
- ureteral obstruction due to urinary stone
- urinary tract infection
- renal cysts are prone to hemorrhage[3]
- intracranial cerebral aneurysm rupture - hemorrhagic stroke
- mitral valve prolapse
- hepatic cysts
- diverticulosis
Management
- avoid renal damage from:
- hypertension
- generally responds to treatment
- target BP < 130/80 mm Hg (unclear)[3]
- ACE inhibitor preferred agent
- ARB if ACE inhibitor not tolerated
- adequate hydration & salt intake > 2 g sodium/day
- fluid overload is generally not a problem
- pain management may be necessary
- puncture of cysts & possibly nephrectomy may be necessary
- urinary tract infections
- lipid soluble antibiotics tend to penetrate cysts well
- fluoroquinolones, chloramphenicol, Bactrim
- treat for 2-4 weeks
- everolimus slows the increase in total kidney volume but does not slow progression of chronic renal failure[7]
- tolvaptan
- renal transplantation
More general terms
More specific terms
- adult polycystic kidney disease/PKD1 locus (16p13.3)
- adult polycystic kidney disease/PKD2 locus (4q21-23)
- adult polycystic kidney disease/PKD3 locus
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1323-35
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 613-14
- ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 3.11 3.12 Medical Knowledge Self Assessment Program (MKSAP) 11, 15, 16, 17, 18. American College of Physicians, Philadelphia 1998, 2009, 2012, 2015, 2018.
Medical Knowledge Self Assessment Program (MKSAP) 19 Board Basics. An Enhancement to MKSAP19. American College of Physicians, Philadelphia 2022 - ↑ 4.0 4.1 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: https://www.ncbi.nlm.nih.gov/pubmed/19470662
- ↑ Pei Y, Obaji J, Dupuis A, Paterson AD Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 2009 Jan;20(1):205-12 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18945943
- ↑ Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int. 2009 Jul;76(2):149-68 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19455193
- ↑ 7.0 7.1 Walz G, Budde K, Mannaa M, Nurnberger J, Wanner C et al Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2010 Aug 26;363(9):830-40. PMID: https://www.ncbi.nlm.nih.gov/pubmed/20581392
- ↑ Schrier RW. Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2009 Sep;20(9):1888-93. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19696226 Free Article
- ↑ Torres VE, Chapman AB, Devuyst O et al Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012 Dec 20;367(25):2407-18. PMID: https://www.ncbi.nlm.nih.gov/pubmed/23121377 Free PMC Article
- ↑ Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008 Oct 2;359(14):1477-85. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18832246
- ↑ 11.0 11.1 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: https://www.ncbi.nlm.nih.gov/pubmed/22431677
- ↑ 12.0 12.1 12.2 Torres VE, Chapman AB, Devuyst O et al Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. N Engl J Med 2017; 377:1930-1942. November 16, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29105594 Free Article <Internet> http://www.nejm.org/doi/full/10.1056/NEJMoa1710030
- ↑ Chapman AB, Devuyst O, Eckardt KU et al Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int. 2015 Jul;88(1):17-27. PMID: https://www.ncbi.nlm.nih.gov/pubmed/25786098 Free PMC Article
- ↑ Krishnappa V, Vinod P, Deverakonda D, Raina R. Autosomal dominant polycystic kidney disease and the heart and brain. Cleve Clin J Med. 2017 Jun;84(6):471-481. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/28628430 Free Article
- ↑ 15.0 15.1 NEJM Knowledge+ Nephrology/Urology
Patient information
autosomal dominant polycystic kidney disease patient information