Cystic Kidney Diseases
Cystic Kidney Diseases
Polycystic kidney disease/Autosomal Dominant polycystic kidney disease (ADPKD)
stop functioning over time. cysts in cortex and medulla. both kidneys.
ischaemia can occur. RAAS activated, fluid retention and hypertension.
urinary stasis and stones
flank pain and haematuria
over time: renal insufficiency and eventually renal failure.
PKD1. more severe. earlier onset. 85% of cases. Cr 16.
PKD2. less severe, 15% Cr 4
polycystin 1 and 2 proteins. components of primary cillium. in nephron, detects urine, and allow calcium to enter, which inhibits cell proliferation. increase in cells, that allow water to be placed inside the lumen and therefore cysts form.
healthy PKD1/2 keep functioning well until they get mutated....
polycystin in Liver, seminal vasicles and pancreas. Vacular ( aortic root dilation (Heart failure), Berry anneurysm
2 cysts in each kidney 30-59
4 cysts in both kidneys is aged > 60
2 cysts, unilateral or bilateral < 30 y.o
berry aneurysms (8%)
CVS system: mitral malve prolapse, mitral/tricuspid incompetance, aortic root dilation, aortic dissection
Liver cysts: 70%
cysts in other organs: pancreas, spleen; very rarely: thyroid, esophagus, ovary
Multicystic dysplastic kidney
Cogenital. urine cannot drain = cyts
fetal developement, ureteric bud doesn't meet metanephric blastema properly, therfore urine cannot drain from the kidneys
cysts full of cartilage
usually sporadic, not inheritance pattern, some genetic and environmental links.
uni or bi lateral ( usually unilateral)
Autosommal Recessive PKD (infantile)
PKHD1 gene. Fibrocystin that co-localises with polycystin 2 and similar mechanism occurs
Renal failure can occur before birth/ infancy
Oligiohydramnios (potter's syndrome includes resp symptoms)
prenatal USS. bilateral large cysts, oligohydramnios
Congenital hepatic fibrosis: portal hypertension, oesophageal varies, upper GI bleeds, haemorrhoids and splenomegaly
Cholangiocytes in bile ducts, their primary cilia have fibrocystin, therefore don't function and cholestasis occurs in the intrahepatic ducts. dilations. poor bile secretion, dilation of the common bile duct; ascending cholangitis.
ACE I / ARBs
portocaval shunt - bypasses liver, portal vein to IVC. or liver transplant.