Polycystic kidney disease

Question 1

What are the genetic causes of cystic kidney disease?

Answer 1

Autosomal dominant

• -> ADPKD
• -> Tuberous sclerosis
• -> von Hippel Lindau disease
• -> Medullary cystic disease

Autosomal recessive:

• -> ARPKD
• -> Juvenile onset nephrophthisis

X-linked:

• -> Orofacial digital syndrome
• -> Chromosome disorder (13/18/21)

Question 2

What are the non-genetic causes of cystic kidney disease?

Answer 2

Development cysts

• –> Medullary Sponge Kidney
• -> Multi-cystic dysplastic kidneys
• -> Pyelocalyceal cysts

Acquired cysts:

• -> Simple cysts
• -> Acquired Renal cystic disease
• -> Hypokalaemia related cysts