Polycystic Kidney Disease Flashcards
ADPKD genetics
mutation on PKD gene 1 chromosome 16
some have PKD2 located on chromosome 4
define ADPKD
AD condition with lots of cysts leading to large kidneys that are gradually replaced by cysts
what are the cysts in ADPKD
epithelial lined cysts in renal tubules
presentation of ADPKD
reduced urine concentrating ability pain hypertension haematuria (cyst rupture, cysitis, stones- pain) cyst infection renal failure
extra-renal presentation of ADPKD
hepatic cysts intra-cranial berry aneurysms cardiac disease (mitral/aortic valve prolapse) diverticular disease abdominal/ inguinal hernias
diagnosis of ADPKD
- large, ballotable kidneys
- USS shows multiple, bilateral cysts
- genetics with mutation analysis
management of ADPKD
genetic counselling (AD) control hypertension hydration tolvaptan reduces cysts volume and progression renal failure= RRT
genetics of ARPKD
gene PKDH1 on chromosome 6
who gets ARPKD
children
presentation of ARPKD
early forms are usually fatal
renal cyst involvement bilateral and symmetrical
kidneys normal size
where do the cysts come from?
collecting ducts
diagnosis of ARPKD
USS showing congenital hepatic fibrosis suggests recessive disease in children
what is acquired cystic disease?
patients on long-term dialysis often develop small cysts
