Path 1 Renal Cystic Flashcards
Autosomal Dominant Polycystic Kidney Disease
- Bilateral kidneys
- Functioning nephrons compressed by cysts
PKD1
Polycystin-1 integral membrane protein
- Localized to tubular epithelial cells of distal nephron
- 85% of cases
- Death by 50 years
PKD2
Polycystin-2 (Ca+ channel)
- All segments of renal tubules as well as extra-renal tissues
- Manifests at around 70 years
ADPKD progression accelerators
- African American (esp. sickle cell)
- Male
- HTN
ADPKD most common cause of death
Coronary or hypertensive heart disease
ADPKD associated pathologies
-Berry aneurysms, mitral valve prolapse, polycystic liver disease
Autosomal Recessive Polycystic Kidney Disease
-PKHD1 gene mutation (fibrocystin)
ARPKD most common cause of death
Respiratory failure due to failed lung development (oligohydramnios)
ARPKD associated pathologies
Congenital hepatic fibrosis
- Portal hypertension
- Splenomegaly
ADPKD v ARPKD gross appearance
Bumpy distorted v. enlarged smooth
ADPKD v ARPKD histologic appearance
- Large cysts compressing normal tubules
- Radial cysts or dilated collecting tubules
Congenital hepatic fibrosis histology
Bile duct proliferation
-Portal fibrosis
Medullary sponge kidney
Cystic dilations of medullary collecting ducts
- Renal function normal (found in adults)
- Small kidneys with granular surfaces
Medullary cystic disease
Cysts at corticomedullary junction
- Cortical atrophy, interstitial fibrosis, thickened BM, preserved glomeruli
- Chronic tubulointerstitial nephritis & renal failure
Congenital medullary cystic disease
Nephronophthisis
