Kidney tumor - cysts, children, adult benign - Autosomal recessive (childhood) polycystic kidney disease

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Kidney tumor - cysts, children, adult benign

Cystic non-neoplastic lesions

Autosomal recessive (childhood) polycystic kidney disease

Reviewers: Mandolin Ziadie, M.D. (see Reviewers page)
Revised: 30 December 2011, last major update December 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.

General
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● Autosomal recessive cystic kidney disorder, usually presenting with bilateral renal cystic disease at birth

Epidemiology
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● 1 per 20,000 live births

Clinical features
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● Patients present prior to or at birth with frequent complications due to limited urine output including oligohydramnios, Potter sequence, joint deformities and pulmonary hypoplasia
● Early mortality is most common, usually due to pulmonary complications
● Perinatal mortality 30-50%; 5 year survival is 80-95% if survive first month of life (Pediatrics 2003;111:1072)
● In surviving cases with pulmonary hypoplasia, kidneys must be removed to allow for growth of lungs
● Usually no cysts other than kidney and liver, but liver is always affected (every portal triad, every case) with herring duct cysts (ductal plate malformation) and congenital hepatic fibrosis
● Patients later develop hypertension, renal insufficiency, portal hypertension with splenomegaly or cholangitis
● May also include older patients presenting with hepatosplenomegaly, hypersplenism, variceal bleeding and cholangitis (Medicine (Baltimore) 2006;85:1)

Clinical images
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Potter facies

Gross description
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● Markedly enlarged kidneys with smooth surface
● Small cysts in cortex and medulla
● Dilated channels are perpendicular to cortical surface
● Cysts are present in medulla (collecting ducts)

Gross images
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Markedly enlarged kidneys fill abdomen and cause pulmonary hypoplasia

Markedly enlarged kidneys

Kidney compared to neonate

Enlarged kidneys with persistent fetal lobation

Enlarged kidneys with persistent fetal lobation #3

Uniform distribution of small cysts

Symmetrically, markedly enlarged kidney with small cysts in cortex and medulla

Small cysts in cortex and medulla

Dilated collecting ducts and macrocysts

Renal surface shows small cysts

Spongy cut surface

Micro description
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● Radially arranged, elongated cysts that form as dilations of all collecting tubules with fluid accumulation
● Cysts lined by cuboidal or flattened cells from collecting tubules
● Normal nephrons without cystic change / interstitial fibrosis are present in between the cysts
● The liver shows portal fibrosis with complex bile ductular profiles
● All portal tracts are involved

Micro images
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Radial arrangement of cysts with only rare glomeruli

Dilated collecting ducts in cortex and medulla

Immunostains

Associated congenital hepatic fibrosis

Virtual slides
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Dilated cysts

Molecular description
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● Mutations in PKHD1 gene (Polycystic Kidney and Hepatic Disease 1, produces fibrocystin / polyductin) at 6p12, expressed in kidney, pancreas and liver (Braz J Med Biol Res 2006;39:1537, OMIM 263200)

Additional references
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● Radiographics 2000;20:837, eMedicine, GeneReviews

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

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