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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.

General
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● 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%

Epidemiology
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● 1-2 / 1000 births
● Males = female

Pathophysiology
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● 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
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● 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
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● 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
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Angiogram


Rectus abdominis diastasis and umbilical hernia


Huge kidneys

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

Molecular description
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● 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
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Large cysts (compare to size of glomeruli)

Additional references
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eMedicine #1, #2, Wikipedia

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


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