How common is Autosomal dominant polycystic kidney disease?

1 in 1,000

Which gene mutation causes Autosomal dominant polycystic kidney disease?

PKD1 or PKD2

What is the pathophysiology of Autosomal dominant polycystic kidney disease?

PKD1 and PKD2, which code for polycystin-1 and polycystin-2 respectively

Does Autosomal dominant polycystic kidney disease type 1 or type 2 present with renal failure first?

type 1

What are the different types of Autosomal dominant polycystic kidney disease?

• Type 1 (most common, presents with renal failure earlier)
• Type 2

What are the USS diagnostic criteria of Autosomal dominant polycystic kidney disease?

• two cysts, unilateral or bilateral, if aged < 30 years
• two cysts in both kidneys if aged 30-59 years
• four cysts in both kidneys if aged > 60 years

What is the management for Autosomal dominant polycystic kidney disease?

tolvaptan (vasopressin receptor 2 antagonist) can slow progression

How many patients with Autosomal dominant polycystic kidney disease end up with end stage renal failure?

50%

What are the clinical features of Autosomal dominant polycystic kidney disease?

• hypertension
• recurrent UTIs
• flank pain
• haematuria
• palpable kidneys
• renal impairment
• renal stones

What is the most common Extra-renal manifestations of Autosomal dominant polycystic kidney disease?

liver cysts (70%)

What are the non renal complications of Autosomal dominant polycystic kidney disease?

• liver cysts (70%): may cause hepatomegaly
• berry aneurysms (8%): rupture can cause subarachnoid haemorrhage
• cardiovascular system: mitral valve prolapse, mitral/tricuspid incompetence, aortic root dilation, aortic dissection
• cysts in other organs: pancreas, spleen; very rarely: thyroid, oesophagus, ovary