Polycystic Kidney Disease Flashcards
Define Polycystic Kidney Disease?
Autosomal dominant inherited disorder characterised by the development of multiple renal cysts that gradually expand and replace normal kidney substance, variably associated with extrarenal (liver and cardiovascular) abnormalities
What is the aetiology of Polycystic Kidney Disease?
85% caused by mutations in PKD1 on chromosome 16
15% caused by mutations of PKD2 on chromosome 4
What is PKD?
It is a membrane-bound multidomain protein involved in cell-cell and cell-matrix interactions
What is the pathophysiology of Polycystic Kidney Disease?
Proliferative/hyperplastic abnormality of the tubular epithelium
Early on, the cysts are connected to the tubules from which they arise and the fluid content is glomerular filtrate
When cyst diameter > 2mm, they detach from the tubule and the fluid content is derived from secretion of the lining epithelium
With time, the cysts enlarge and cause progressive damage to adjacent functioning nephrons
What is the epidemiology of Polycystic Kidney Disease?
Most Common inherited kidney disorder
Responsible for 10% of end-stage renal failure
What are the presenting symptoms of Polycystic Kidney Disease?
Presentin 30-40 yrs 20% have no family histroy May be asymptomatic Flank pain Haematuria Hypertension Associated with berry aneurysms and may present with subarachnoid haemorrhage
What does the flank pain in Polycystic Kidney Disease result from?
Cyst enlargement/bleeding
Stone
Blood clot migration
Infection
What are the signs of Polycystic Kidney Disease?
Abdominal distension
Enlarged cystic kidneys
Palpable liver
Hypertension
Signs of chronic renal failure (at late stage)
Signs of associated AAA or aortic valve disease
What investigation do we do for Polycystic Kidney Disease?
US or CT
Why do we do US or CT for Polycystic Kidney Disease?
Will show multiple cysts bilaterally in enlarged kidneys
Liver cysts may also be seen
