Renal cyst

Question 1

ADPKD

Answer 1

Formerly adult polycystic kidney disease

Multiple, large, bilateral cysts that ultimately destroys the parenchyma

Question 2

ADPKD presentation

Answer 2

Flank pain, hematuria, HTN, UTI, progressive renal failure

Question 3

ADPKD mutation

Answer 3

AD mutation in PDK1 or PDK2

Question 4

ADPKD death

Answer 4

Complications from CKD or HTN (caused by high renin)

Question 5

ADPKD association

Answer 5

Berry aneurysm,
Mitral valve prolapse
Benign hepatic cysts

Question 6

ARPKD

Answer 6

Formerly polycystic kidney disease
Infantile presentation in parenchyma,

AR

Question 7

ARPKD association

Answer 7

Associated with congenital hepatic fibrosis

Significant renal failure in utero results in Potter’s syndrome

Concerns beyond neonatal period: HTN, portal HTN, and progressive renal insufficiency

Question 8

Medullary cystic disease

Answer 8

AD Inherited disease causing tubulointerstitial fibrosis and progressive renal insufficiency with inability to concentrate urine.

Medullary cysts usually not visualized;
shrunken kidney on ultrasound.

Poor prognosis.