cystic kidney disease Flashcards
(15 cards)
what is the mechanism associated with multi cystic dysplastic kidney ?
when there is abnormal ureteric bud and mesenchyme interaction
where the kidney is replaced by cysts
what anatomical structure is usually absent in multi cystic dysplastic kidney ?
absent ureter
what are the different presentations associated with multicystic dysplastic kidney disease ?
if the affection is unilateral - the remaining kidney hypertrophies
if it is bilateral - then the patient has potter syndrome
what is the occurence of multicystic dysplastic kidney ?
always spontaneous
what are the two forms of polycystic kidney disease ?
autosomal recessive ( infants )
autosomal dominant ( adults)
what are the key associations with ARPKD?
liver disease
portal hypertension
what chromosome is affected in ARPKD ?
chromosome 6
mutation in PHKD1
what is the mechanism associated with ADPKD ?
inherited mutation of APKD 1 or APKD 2 on chromosome 16
born with small cysts aslan - appear normal
cysts develop over the years
what are the key associations with ADPKD ?
berry aneurysms
liver cysts
mitral valve prolapse
what is the mutated protein in ADPKD ?
polycystin
why is there hypertension in ADPKD?
due to increased production of renin
what is the association with autosomal recessive polycystic kidney ?
congenital hepatic fibrosis
what is the difference between simple and complex renal cysts ?
simple - filled with ultrafiltrate
complex cysts - risk of renal cell carcinoma
what is the mechanism in medullary cytic kidney disease ?
also called autosomal dominant tubulointerstitial kidney disease , where there are cysts in the collecting duct
what is the clinical association with medullary cystic kidney disease ?
development of gout and renal failure
