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Diagnosis of and screening for autosomal dominant polycystic kidney disease

Vicente E Torres, MD
William M Bennett, MD
Section Editor
Ronald D Perrone, MD
Deputy Editor
Alice M Sheridan, MD


Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder, occurring in approximately 1 in every 400 to 1000 live births [1-3]. It is estimated that less than one-half of these cases will be diagnosed during the patient's lifetime as the disease is often clinically silent [1].

Approximately 78 percent of families with ADPKD have an abnormality on chromosome 16 (PKD1 locus) that is tightly linked to the alpha-globin gene locus [4]. Most of the remaining families (14 percent) have a different defect that involves a gene on chromosome 4 (the PKD2 locus). In approximately 8 percent of families, no mutation is detected. In small number of these families, mutations in GANAB encoding the glucosidase II alpha subunit have been identified [5]. (See "Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth".)

Patients with PKD2 have a less severe phenotype than those with PKD1, but neither disorder is benign [6]. Cysts occur later in PKD2 disease, as does end-stage renal disease (ESRD; mean age 74.0 versus 54.3 years in PKD1) [7]. As a result, false-negative results are more likely when screening young subjects with PKD2 disease. (See "Course and treatment of autosomal dominant polycystic kidney disease".)

The diagnosis of and screening for ADPKD will be reviewed here. The course and treatment of this disorder are discussed separately. (See "Course and treatment of autosomal dominant polycystic kidney disease".)


The diagnosis of ADPKD relies principally upon imaging of the kidney [8]. Typical findings include large kidneys and extensive cysts scattered throughout both kidneys. Because of cost and safety, ultrasonography is most commonly used as the imaging modality. In certain settings, genetic testing is required for a definitive diagnosis.

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Literature review current through: Nov 2017. | This topic last updated: Jan 06, 2017.
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  1. Davies F, Coles GA, Harper PS, et al. Polycystic kidney disease re-evaluated: a population-based study. Q J Med 1991; 79:477.
  2. Gabow PA. Autosomal dominant polycystic kidney disease. N Engl J Med 1993; 329:332.
  3. Levy M, Feingold J. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Int 2000; 58:925.
  4. Harris PC, Torres VE. Autosomal dominant polycystic kidney disease. Gene Clinics Online Reviews at Gene Tests-Gene Clinics (University of Washington, Seattle, 2002).
  5. Porath B, Gainullin VG, Cornec-Le Gall E, et al. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet 2016; 98:1193.
  6. Grantham JJ. Clinical practice. Autosomal dominant polycystic kidney disease. N Engl J Med 2008; 359:1477.
  7. 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 1999; 353:103.
  8. Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet 2007; 369:1287.
  9. 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; 88:17.
  10. Taylor M, Johnson AM, Tison M, et al. Earlier diagnosis of autosomal dominant polycystic kidney disease: importance of family history and implications for cardiovascular and renal complications. Am J Kidney Dis 2005; 46:415.
  11. Pei Y, Obaji J, Dupuis A, et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 2009; 20:205.
  12. Pei Y, Hwang YH, Conklin J, et al. Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2015; 26:746.
  13. Ravine D, Gibson RN, Walker RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994; 343:824.
  14. Nicolau C, Torra R, Badenas C, et al. Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology 1999; 213:273.
  15. Zand MS, Strang J, Dumlao M, et al. Screening a living kidney donor for polycystic kidney disease using heavily T2-weighted MRI. Am J Kidney Dis 2001; 37:612.
  16. Chapman AB. Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol 2007; 18:1399.
  17. Bae KT, Zhu F, Chapman AB, et al. Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol 2006; 1:64.
  18. Ecder, T, Fick-Brosnahan, et al. Polycystic kidney disease. In: Diseases of the Kidney and Urinary Tract, 8th ed, Shrier, RW (Eds), Lippincott, Williams, and Wilkins, Philadelphia 2007.
  19. Ravine D, Gibson RN, Donlan J, Sheffield LJ. An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases. Am J Kidney Dis 1993; 22:803.
  20. Carrim ZI, Murchison JT. The prevalence of simple renal and hepatic cysts detected by spiral computed tomography. Clin Radiol 2003; 58:626.
  21. Clayman RV, Surya V, Miller RP, et al. Pursuit of the renal mass. Is ultrasound enough? Am J Med 1984; 77:218.
  22. Kimberling WJ, Fain PR, Kenyon JB, et al. Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 1988; 319:913.
  23. Bisceglia M, Cretì G. AMR series unilateral (localized) renal cystic disease. Adv Anat Pathol 2005; 12:227.
  24. Fick-Brosnahan G, Johnson AM, Strain JD, Gabow PA. Renal asymmetry in children with autosomal dominant polycystic kidney disease. Am J Kidney Dis 1999; 34:639.
  25. Slywotzky CM, Bosniak MA. Localized cystic disease of the kidney. AJR Am J Roentgenol 2001; 176:843.
  26. Levine E. Acquired cystic kidney disease. Radiol Clin North Am 1996; 34:947.
  27. Gambaro G, Feltrin GP, Lupo A, et al. Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s. Kidney Int 2006; 69:663.
  28. Murray KK, McLellan GL. Renal peripelvic lymphangiectasia: appearance at CT. Radiology 1991; 180:455.
  29. Zerres K, Senderek J, Rudnik-Schöneborn S, et al. New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene. Clin Genet 2004; 66:53.
  30. Thauvin-Robinet C, Cossée M, Cormier-Daire V, et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet 2006; 43:54.
  31. Brook-Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet 1994; 8:328.
  32. Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997; 61:843.
  33. Martignoni G, Bonetti F, Pea M, et al. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. Am J Surg Pathol 2002; 26:198.
  34. Consugar MB, Wong WC, Lundquist PA, et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney Int 2008; 74:1468.
  35. Huang E, Samaniego-Picota M, McCune T, et al. DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease. Transplantation 2009; 87:133.
  36. Rossetti S, Hopp K, Sikkink RA, et al. Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol 2012; 23:915.
  37. Tan AY, Michaeel A, Liu G, et al. Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. J Mol Diagn 2014; 16:216.
  38. Autosomal dominant polycystic kidney disease mutation database: PKDB http://pkdb.mayo.edu/ (Accessed on July 06, 2015).
  39. Sujansky E, Kreutzer SB, Johnson AM, et al. Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease. Am J Med Genet 1990; 35:510.
  40. De Rycke M, Georgiou I, Sermon K, et al. PGD for autosomal dominant polycystic kidney disease type 1. Mol Hum Reprod 2005; 11:65.