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15 Cards in this Set
- Front
- Back
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Polycystic kidney disease inheritance
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Autosomal dominant (polycystin mutation)
Recessive (fibrocystin mutation) |
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Causes of cysts in the kidney
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Inherited polycystic kidney disease
Simple cysts - benign Aquired cysts associate with renal fail Tuberous sclerosis - angiomyolipomas Von Hipple Lindau |
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DDx of multiple cysts in both kidneys
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AD/AR polycystic kidney disease
Multiple simple cysts Von Hippel Lindau syndrome Tuberous sclerosis |
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AD Polycystic kidney disease epidemiology
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relatively common genetic disease
1/400-1/1000 birth prevalence 500K in US 6 million in world 7-10% of dialysis patients Prevalence is worldwide |
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Diagnosing AD polycystic kidney disease
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With known family history:
2 cysts by age 30 2 cysts in each kidney from 30-59 4 cysts each kidney >60 Without FHx Bilateral renal enlargement with cysts No other explanation |
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PKD-1
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Gene mutation in 85% of AD polycystic kidney disease
Chromosome 16 Makes polycystin-1 Sensor of extra cell environs Cell to cell or cell to matrix interaction protein |
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Mechanism of cyst formation in AD PKD
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Cysts arise as expansions of renal tubule
Can arise in any segment Disconnect from tubular lumen |
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Mechanism of cyst formation in AR PKD
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Cysts arise as expansions of renal tubule
Arise from collecting duct Remain connected to lumen |
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PKD-2
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Less frequent mutated gene in AD polycystic kidney disease
Chromosome 4 Polycystin-2 thought to be a calcium channel may be involved with getting polycystin-1 to membrane, or its fnc |
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Polycystic kidney disease presentation
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Abdominal pain
Hypertension UTIs Hematuria - cysts can rupture Fatigue Increased rates of stones Increase in RCC -- different behavior |
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AD polycystic kidney disease natural history
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Highly penetrant gene
Loss of renal fnc seen in 30s, 40s 50% have ESRD by age 60 Patient factors affect course |
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Phenotypic variability
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Same genes can result in different phenotypes
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Autosomal dominant polycystic kidney disease pleiotropic effects
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Hepatic cysts
GI diverticuli Cerebrovascular aneurysms Valvular abnormalities |
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Monitoring for disease progression in polycystic kidney disease
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Hypertension
Creatinine Kidney volume - imaging MRAngiography for patients w/ Fhx/o stroke or aneurysm |
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AR polycystic kidney disease epi
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Rare - 1/20K births
Fetal/neonatal death is common huge kidneys compress lungs |
