Kidney nontumor / medical renal

Developmental & cystic diseases

Autosomal dominant polycystic kidney disease

Last author update: 1 December 2011
Last staff update: 8 May 2024 (update in progress)

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PubMed Search: autosomal dominant (adult) polycystic kidney disease

Mandolin S. Ziadie, M.D.
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Cite this page: Ziadie MS. Autosomal dominant polycystic kidney disease. website. Accessed May 19th, 2024.
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 / 1,000 births
  • M = F
  • 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

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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

Contributed by Debra L. Zynger, M.D.
Numerous cysts of varying sizes Numerous cysts of varying sizes Numerous cysts of varying sizes

Numerous cysts of varying sizes

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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
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