Polycystic kidney disease Flashcards
What is it?
Polycystic kidney disease (PKD) is part of a heterogeneous group of disorders characterised by renal cysts and systemic manifestations like;
extrarenal cysts, intracranial aneurysms and elongated and distended arteries, aortic root dilation and aneurysms, mitral valve prolapse, and abdominal wall hernias.
the cysts expand and replace normal kidney substance
What are the common forms of this?
There are 2 types: autosomal-dominant and autosomal-recessive. AD is the more common form.
Aetiology of PKD?
85% caused by mutations in PKD1 on chromosome 16
15% caused by mutations of PKD2 on chromosome 4
Pathophysiology;
Early on, the cysts are connected to the tubules from which they arise and the fluid content is glomerular filtrate
With time, the cysts enlarge and cause progressive damage to adjacent functioning nephrons
Summarise the epidemiology of polycystic kidney disease
MOST COMMON inherited kidney disorder
Responsible for 10% of end-stage renal failure
Risk factors for PKD?
family history of autosomal-dominant PKD
family history of cerebrovascular event
Recognise the presenting symptoms of polycystic kidney disease
Present at 30-40 yrs
20% have no family history
May be asymptomatic
Flank Pain - may result from cyst enlargement/bleeding, stone, blood clot migration, infection
Haematuria
Headache
Associated with berry aneurysms and may present with subarachnoid haemorrhage !!!!!
Most get a uti @ some point; Dysuria, urgency suprapubic pain, fever
Recognise the signs of polycystic kidney disease on physical examination
Hypertension
Abdominal distension
Enlarged cystic kidneys
Palpable liver
Signs of chronic renal failure (at late stage)
Signs of associated AAA or aortic valve disease - CARDIAC MURMUR
Investigations
Renal ultrasound - polycystic kidneys bilateral
possible liver cysts
Abdo CT
othere tests for complications
