polycystic kidney disease

Question 1

what

Answer 1

genetic condition where kidneys develop multiple fluid-filled cysts

kidney function significantly impaired

Question 2

diagnosis

Answer 2

USS

genetic testing

Question 3

Autosomal Dominant Type: geens

Answer 3

PKD-1 chr 16

PKD-2 chr 4

Question 4

Autosomal Dominant Type: extra-renal manifestations

Answer 4

cerebral aneurysms
hepetic, splenic, pancreatic, ovarian, prostatic cysts
cardiac valve disease: mitral regurg
aortic root dilatation 
colonic diverticula

Question 5

Autosomal Dominant Type: complications

Answer 5

chronic loin pain 
hypertension 
gross haematuria - cyst rupture
renal stones
end-stage renal failure at 50yrs

Question 6

Autosomal Recessive Type: gene

Answer 6

gene on chromosome 6

Question 7

Autosomal Recessive Type

Answer 7

rarer and more severe

Question 8

Autosomal Recessive Type: how does it usually present

Answer 8

in pregnancy with oligohydramnios as featus foes not produce enough urine

Question 9

Autosomal Recessive Type: features

Answer 9

oligohydramnios leags to underdeveloped lungs - resp failure shortly after birth
dialysis within first few days life
dysmorphic - underdeveloped ear cartilage, low set ears, flat nose bridge
end-stage renal failure before adulthood

Question 10

Mx

Answer 10

tolvaptan (autosomal dominant)

Mx complications
regular USS, renal function bloods, BP

Question 11

tolvaptan

Answer 11

vasopressin receptor antagonis

can slow development of cysts and progression of renal failure in autosomal dominant

Question 12

what to avoid in PKD

Answer 12

contact sports - risk cyst rupture

anti-inflammatories and anticoagulants