Polycystic Kidney Disease(PKD) Flashcards
describe the inheritance pattern of pre-dominant variant of PKD
autosomal dominant (Autosomal Dominant Polycystic Kidney Disease-ADPKD)
what gene mutation is most commonly associated with ADPKD and what chromosome is it seen on
PKD gene 1, located on chromosome 16
describe the pathology seen in ADPKD
massive cyst enlargement(larger kidneys), epithelial lined cysts arise from small population of renal tubules, benign adenomas
what renal clinical features are seen with ADPKD
chronic pain, hypertension, haematuria, cyst infection, renal failure
describe the affect of ADPKD on urine
reduced urine concentrating ability
what extra-renal clinical features can be seen with ADPKD
hepatic cysts(most common), intra cranial aneurysms(if FH CVD), CVD, diverticular disease, hernias(abdo/inguinal)
describe what is used to diagnose ADPKD
USS(enlargement + bilateral cysts), if USS not clear then CT/MRI
also genetic studies
at what age does ADPKD usually present
usually in adulthood, but can in children too(less common)
describe the general management of ADPKD
manage hypertension, proteinuria reduction, hydration, treat cyst infections
what is the role of Tolvaptan in managing ADPKD
reduces cyst volume and slows progression of disease, and therefore slows loss of kidney function
what management is used for renal failure that occurs due to ADPKD
dialysis, transplantation
in what group of people is autosomal recessive PKD(ARPKD) usually seen
young children
much less common than ADPKD
what extra-renal feature is ARPKD often associated with
hepatic lesions
describe the renal cysts seen with ARPKD
seen appearing from the collecting duct system
describe the clinical features seen with ARPKD
renal/hepatic lesions, kidney always palpable, hypertension recurrent UTI, slow decline in GFR
