Kidney nontumor / medical renal
Developmental & cystic diseases
Autosomal recessive polycystic kidney disease
Author: Mandolin S. Ziadie, M.D.
Last author update: 1 December 2011
Last staff update: 14 September 2023
Copyright: 2003-2024, PathologyOutlines.com, Inc.
PubMed Search: Autosomal recessive (childhood) polycystic kidney disease
Table of Contents
Definition / general | Epidemiology | Clinical features | Gross description | Gross images | Microscopic (histologic) description | Microscopic (histologic) images | Molecular / cytogenetics description | Additional referencesCite this page: Ziadie MS. Autosomal recessive polycystic kidney disease. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/kidneytumorchildpkd.html. Accessed December 25th, 2024.
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)
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
Images hosted on other servers:
Markedly enlarged kidneys
Enlarged kidneys with persistent fetal lobation
Uniform distribution of small cysts
Small cysts in cortex and medulla
Renal surface shows small cysts
Spongy cut surface
Microscopic (histologic) 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
Microscopic (histologic) images
Images hosted on other servers:
Radial arrangement of cysts with only rare glomeruli
Dilated collecting ducts in cortex and medulla
Immunostains
Associated congenital hepatic fibrosis
Molecular / cytogenetics description
- 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
