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

Author: Mandolin Ziadie, M.D. (see Authors page)

Revised: 6 January 2017, last major update December 2011

Copyright: (c) 2003-2017, PathologyOutlines.com, Inc.

PubMed Search: Autosomal recessive (childhood) polycystic kidney disease [title]

Cite this page: Autosomal recessive (childhood) polycystic kidney disease. PathologyOutlines.com website. http://pathologyoutlines.com/topic/kidneytumorchildpkd.html. Accessed February 21st, 2017.
Definition / General
  • Autosomal recessive cystic kidney disorder, usually presenting with bilateral renal cystic disease at birth
Epidemiology
  • 1 per 20,000 live births
Clinical Features
  • 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
  • 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

Enlarged kidneys with persistent fetal lobation

Enlarged kidneys with persistent fetal lobation



Uniform distribution of small cysts

Small cysts in cortex and medulla

Dilated collecting ducts and macrocysts

Renal surface shows small cysts

Spongy cut surface

Micro Description
  • 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

Molecular / Cytogenetics Description