Renal Pathology 6 Flashcards
What are 7 examples of renal cystic diseases?
adult polycystic kidney disease, childhood polycystic kidney disease, medullary sponge kidney, familial juvenile nephronophthisis, multicystic renal dysplasia, acquired renal cystic disease, simple cysts
how is autosomal dominant polycystic kidney disease characterized?
it is a hereditary disorder characterized by multiple expanding cysts that ultimately destroy the renal parenchyma and cause renal failure
when does autosomal dominant polycystic kidney disease present?
4th or 5th decade of life: the cysts initially involve a minority of the nephrons, so renal function is retained until about the 4th or 5th decade of life
what gene is mutated in adult polycystic kidney disease?
PKD1 or PKD2
what type of mutations are present in ADPKD?
the first one is germline and the second one is somatic (this means that it is in every kidney cell- so its going to be bilateral)
the underlying mutations in ADPKD involve a couple of proteins. What are they?
polycystin 1, polycystin 2, fibrocystin, or nephrocystin
what exactly happens when the proteins are mutated in ADPKD?
it changes the ability of the tubular cilia to function properly; they also are associated with a change in calcium transportation across tubular epithelial cells–> both of these lead to altered tubular epithelial growth and differentiation
what protein is associated with calcium permeability in ADPKD?
polycystin 2
what is associated with ADPKD?
berry aneurysms and mitral valve prolapse
how does autosomal recessive polycystic kidney disease look on gross appearance?
on cut section, numerous small cysts are in the cortex and medulla
what is the most common genetic cause of ESRD in children and young adults?
nephronophthisis
what genes are mutated in juvenile nephronophthisis?
NPHP1-NPHP11
what is characteristic of nephronophthisis?
cysts are the corticomedullary junction
what is the cause of eventual renal insufficiency in nephronophthisis?
the cortical tubulointerstitial damage
what is multicystic renal dysplasia?
a sporadic disorder that can be unilateral or bilateral; enlarged kidney, multiple cysts
