Medullary Cystic disease

Question 1

who gets it?

Answer 1

It is an autosomal dominant condition
morphologically there are abnormal renal tubules - fibrosis
Affected - normal/small kidneys
the cysts are in the corticomedullary junction/ medulla - not essential for diagnosis

Question 2

how is it investigated?

Answer 2

family history
CT scan
average age 28 yrs

Question 3

how is it treated?

Answer 3

renal transplantation