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5 Cards in this Set
- Front
- Back
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AD Polycystic Kidney Disease |
Adult variant, bilateral development of multiple cysts leading to loss of renal function by 40-50s. PKD1 (polycystin 1) and PKD2 (polycystin 2) associated mutations, which causes ciliary dysfucnction and Ca fluxes, these in turn cause cyst formation and disruption of the renal function enlarged mass effect. Also leads to hepatic involvement, berry aneuryms, mitral valve prolapse |
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AR Polycystic Kidney Disease |
Occurs early in life. Mutation of PHKD1 encoding fibrocystin More likely to cause intrarenal cysts not seen on morphology. Will lead to secondary hepatic fibrosis |
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Medullary Sponge Kidney |
seen radiologically, without symptoms and shows dilated collecting ducts within the medulla. |
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Nephronophthisis |
1. Sporadic: 2. Familial Juvenille: Most common 3. Renal-Retinal: Present with polyuria and polydypsia secondary to sodium wasting and inability to concentrate within tubules. Leads to small cysts |
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Multicystic Renal Dysplasia |
Uni/bilaterally cystic enlargement of the kidney. Flow of kidney is disrupted by inappropriate islands of cartilage and random material |
