Flashcards in Cystic renal disease Deck (15):
Is the presence of a few renal cortical cysts in adults a cause for concern?
What is the factor that elevates cause for concern with cysts?
What features characterize AD (adult) polycystic disease?
Slowly expanding cysts that compress normal tissue causing ischemic atrophy
What are the causes of AD polycystic kidney disease?
1.Mutations in Polycystin-1
2.Mutations in Polycystin-2
What are the results of Polycystin mutations
2.Defective mechanosensing of urine flow
3.Dysregulation of cell adhesion
At what level of the nephron do cysts form?
What is the theory behind the mutations of PKD
Two hit hypothesis.
At what age do symptoms usually start?
What are the symptoms?
Flank pain or a dragging sensation in the abdomen.
2.Frequent gross Hematuria
3.Hypertension develops in 75%
4.Cyst formation in the Liver
5.Cerebral vascular aneurysms
-risk for sudden death due to rupture and subarachnoid hemorrhage
What is the cause of AR PKD?
Mutations in Fibrocystin
What is fibrosystin?
A protein of uncharacterized function in the cilia of tubular epithelial cells
What are the consequences of AR PKD?
Immediate untreatable respiratory failure at birth due to pulmonary hypoplasia
What is Nephronopthisis?
Medullary cystic disease complex AR cystic renal disease
Where are cysts located in Nephronopthisis?
numerous small cysts at the corticomedullary junction