Kidney nontumor
Developmental & cystic diseases
Autosomal dominant polycystic kidney disease

Topic Completed: 1 December 2011

Minor changes: 30 June 2020

Copyright: 2003-2019,, Inc.

PubMed Search: autosomal dominant (adult) polycystic kidney disease

Mandolin S. Ziadie, M.D.
Page views in 2020: 5,637
Page views in 2021 to date: 1,994
Cite this page: Ziadie MS. Autosomal dominant polycystic kidney disease. website. Accessed April 19th, 2021.
Definition / general
  • Autosomal dominant renal cystic disorder due to mutations in genes coding for polycystin 1 (PKD1, chromosome 16p, most common) and polycystin 2 (PDK2, chromosome 4q)
  • Also associated with TSC2 / PKD1 contiguous gene syndrome (Am J Surg Pathol 2002;26:198)
  • Usually inherited; new mutations without a family history occur in approximately 10%
  • 1 - 2 / 1000 births
  • Males = female
  • Mutated proteins are involved in cell differentiation, polarization, proliferation and membrane transport
  • The exact mechanism of cyst formation is not yet understood
  • Cysts form in all regions of the nephron, enlarging and expanding throughout life
  • Normal renal function is maintained until midadulthood in most patients
Clinical features
  • Third most common cause of endstage renal disease
  • Patients present with hematuria, abdominal pain, hypertension, urinary tract infection or urolithiasis
  • Associated with von Meyenburg complexes in liver (97%, Mod Pathol 1996;9:233); hepatic cysts (40% - 88%); berry aneurysms (10% - 30%, cause death in 4% - 10%); mitral valve prolapse (20%); cysts in pancreas, lung, spleen, pineal gland and seminal vesicles; aortic aneurysms; hepatic fibrosis; intestinal diverticula
  • 25% die from infection, 40% from hypertension and heart disease and 15% from berry aneurysms or stroke
Prognostic factors
  • Poor prognostic factors: sickle cell trait, male sex, early disease onset, early hypertension onset and proteinuria
Case reports
Clinical images

Images hosted on other servers:
Missing Image


Gross description
  • Markedly enlarged kidneys with bosselated surface (up to 8 kg) composed of subcapsular cysts up to 4 cm
  • Cysts contain clear to brown fluid
Gross images

Images hosted on other servers:

Enlarged kidney with variably sized cysts

With transplanted kidney

Compared to normal kidney

Hemorrhagic infarct with rupture

Microscopic (histologic) description
  • Saccular expansions or diverticula of all portions of renal tubule and glomerular capsule that later become disconnected and filled with fluid
  • Cysts are lined by cuboidal or flattened epithelium, may have papillary projections or polyps
  • Functional nephrons exist between cysts with areas of global sclerosis, tubular atrophy, interstitial fibrosis and chronic inflammation
  • Infants may show primarily cystic dilatation of Bowman's space
  • 20% have renal adenomas
Microscopic (histologic) images

Images hosted on other servers:

Cysts of varying sizes; glomerular cyst present at birth (rare)

Molecular / cytogenetics description
  • PKD1 gene on 16p13.3 (altered in 85% - 90% of cases) produces polycystin 1; function unknown (OMIM 601313)
  • PKD2 gene on 4q13-23 (altered in 10% of cases) produces polycystin 2; later onset and development of chronic renal failure than PKD1 (OMIM 173910)
  • PKD3 gene: minority of cases, gene unmapped (OMIM 600666)
  • 10% lack a family history and are considered new mutations
Additional references
Back to top
Image 01 Image 02