Home   Chapter Home   Jobs   Conferences   Fellowships   Books


Kidney tumor - cysts, children, adult benign

Cystic non-neoplastic lesions

Autosomal dominant (adult) polycystic kidney disease

Reviewers: Mandolin Ziadie, M.D. (see Reviewers page)
Revised: 13 December 2011, last major update December 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.


● 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 mid-adulthood in most patients

Clinical features

● Third most common cause of end-stage 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
Poor prognostic factors: sickle cell trait, male sex, early disease onset, early hypertension onset and proteinuria
Treatment: laparoscopic nephrectomy (Can J Urol 2006;13:3340), transplant

Case reports

● Polycystic liver disease and hemorrhagic hereditary telangiectasia (Am J Surg Pathol 1998;22:649)
● 15 year old girl with no family history but classic findings and oral-facial-digital syndrome type I (Arch Pathol Lab Med 1991;115:519)
● Patient with littoral cell angioma of spleen (Arch Pathol Lab Med 2001;125:1505)

Clinical images


Rectus abdominis diastasis and umbilical hernia

Huge kidneys

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


Enlarged kidney with variably sized cysts

Enlarged kidney with variably sized cysts #1, #2

With transplanted kidney

Compared to normal kidney

Hemorrhagic infarct with rupture

Micro 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 Bowmanís space
● 20% have renal adenomas

Micro images


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

Molecular 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

Virtual slides

Large cysts (compare to size of glomeruli)

Additional references

eMedicine #1, #2, Wikipedia

End of Kidney tumor - cysts, children, adult benign > Cystic non-neoplastic lesions > Autosomal dominant (adult) polycystic kidney disease

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at [email protected] with any questions (click here for other contact information).