Polycystic Kidney Disease Differential Diagnoses
- Author: Roser Torra, MD, PhD; Chief Editor: Vecihi Batuman, MD, FACP, FASN more...
Diagnostic Considerations
Problems to be considered in the differential diagnosis of autosomal dominant polycystic kidney disease include the following:
- Acquired renal cystic disease
- Autosomal recessive polycystic kidney disease
- Medullary cystic disease
- Orofaciodigital type II syndrome
- Renal dysplasia
- Simple renal cysts
- Tuberous sclerosis
Differential Diagnoses
Wilson PD. Polycystic kidney disease. N Engl J Med. Jan 8 2004;350(2):151-64. [Medline].
Pirson Y. Extrarenal Manifestations of Autosomal Dominant Polycystic Kidney Disease. Adv Chronic Kidney Dis. Mar 2010;17(2):173-180. [Medline].
Tufan F, Uslu B, Cekrezi B, Uysal M, Alpay N, Turkmen K, et al. Assessment of Adrenal Functions in Patients with Autosomal Dominant Polycystic Kidney Disease. Exp Clin Endocrinol Diabetes. Feb 9 2010;[Medline].
Torres VE. Vasopressin antagonists in polycystic kidney disease. Kidney Int. Nov 2005;68(5):2405-18. [Medline]. [Full Text].
Ong AC, Wheatley DN. Polycystic kidney disease--the ciliary connection. Lancet. Mar 1 2003;361(9359):774-6. [Medline].
Rossetti S, Harris PC. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol. May 2007;18(5):1374-80. [Medline].
Qian F, Watnick TJ, Onuchic LF, et al. The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I. Cell. Dec 13 1996;87(6):979-87. [Medline].
Fary Ka E, Seck SM, Niang A, et al. Patterns of autosomal dominant polycystic kidney diseases in black Africans. Saudi J Kidney Dis Transpl. Jan 2010;21(1):81-6. [Medline].
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. Jan 2006;1(1):148-57. [Medline].
Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. May 18 2006;354(20):2122-30. [Medline]. [Full Text].
Idrizi A, Barbullushi M, Petrela E, et al. The influence of renal manifestations to the progression of autosomal dominant polycystic kidney disease. Hippokratia. Jul 2009;13(3):161-4. [Medline]. [Full Text].
Hateboer N, v Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. Jan 9 1999;353(9147):103-7. [Medline].
Torra R, Badenas C, Darnell A, et al. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2. J Am Soc Nephrol. Oct 1996;7(10):2142-51. [Medline].
Chauveau D, Pirson Y, Verellen-Dumoulin C, et al. Intracranial aneurysms in autosomal dominant polycystic kidney disease. Kidney Int. Apr 1994;45(4):1140-6. [Medline].
Rahman E, Niaz FA, Al-Suwaida A, et al. Analysis of causes of mortality in patients with autosomal dominant polycystic kidney disease: A single center study. Saudi J Kidney Dis Transpl. Sep-Oct 2009;20(5):806-10. [Medline].
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. Sep 2009;20(9):1888-93. [Medline].
Cadnapaphornchai MA, McFann K, Strain JD, et al. Prospective change in renal volume and function in children with ADPKD. Clin J Am Soc Nephrol. Apr 2009;4(4):820-9. [Medline].
Pei Y. Diagnostic approach in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. Sep 2006;1(5):1108-14. [Medline].
Sawicki M, Walecka A, Rozanski J, et al. Doppler sonography measurements of renal vascular resistance in autosomal-dominant polycystic kidney disease. Med Sci Monit. Aug 2009;15(8):MT101-4. [Medline].
Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. Apr 2 1994;343(8901):824-7. [Medline].
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. Jan 2009;20(1):205-12. [Medline]. [Full Text].
Huston J 3rd, Torres VE, Wiebers DO, et al. Follow-up of intracranial aneurysms in autosomal dominant polycystic kidney disease by magnetic resonance angiography. J Am Soc Nephrol. Oct 1996;7(10):2135-41. [Medline].
Irazabal MV, Huston J 3rd, Kubly V, Rossetti S, Sundsbak JL, Hogan MC, et al. Extended follow-up of unruptured intracranial aneurysms detected by presymptomatic screening in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. Jun 2011;6(6):1274-85. [Medline]. [Full Text].
Torres VE, Grantham JJ, Chapman AB, Mrug M, Bae KT, King BF Jr, et al. Potentially Modifiable Factors Affecting the Progression of Autosomal Dominant Polycystic Kidney Disease. Clin J Am Soc Nephrol. Mar 2011;6(3):640-647. [Medline].
Masoumi A, Reed-Gitomer B, Kelleher C, et al. Potential pharmacological interventions in polycystic kidney disease. Drugs. 2007;67(17):2495-510. [Medline].
Walz G. Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel?. Nephrol Dial Transplant. Jul 2006;21(7):1752-7. [Medline].
Torres VE, Harris PC. Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol. Jan 2006;2(1):40-55; quiz 55. [Medline]. [Full Text].
Torres VE, Harris PC. Polycystic kidney disease: genes, proteins, animal models, disease mechanisms and therapeutic opportunities. J Intern Med. Jan 2007;261(1):17-31. [Medline].
Schrier RW. Optimal care of autosomal dominant polycystic kidney disease patients. Nephrology (Carlton). Apr 2006;11(2):124-30. [Medline].
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. Jun 2011;57(6):856-62. [Medline].
Russell RT, Pinson CW. Surgical management of polycystic liver disease. World J Gastroenterol. Oct 14 2007;13(38):5052-9. [Medline].
Sallee M, Rafat C, Zahar JR, et al. Cyst infections in patients with autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol. Jul 2009;4(7):1183-9. [Medline].
Doulton TW, Saggar-Malik AK, He FJ, Carney C, Markandu ND, Sagnella GA, et al. The effect of sodium and angiotensin-converting enzyme inhibition on the classic circulating renin-angiotensin system in autosomal-dominant polycystic kidney disease patients. J Hypertens. May 2006;24(5):939-45. [Medline].
Tahvanainen E, Tahvanainen P, Kääriäinen H, et al. Polycystic liver and kidney diseases. Ann Med. 2005;37(8):546-55. [Medline].
Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. Apr 14 2007;369(9569):1287-301. [Medline].
Weimbs T. Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?. Cell Cycle. Nov 1 2006;5(21):2425-9. [Medline].

