Notes Regarding Renal Cystic Disease

Question 1

Notes Regarding Renal Cystic Disease

Answer 1

Kidney size:

Large: ADPKD, TSC-PKD1 contiguous gene deletion syndrome

Normal to small: MSK

Small: nephronophthisis (autosomal-dominant or -recessive tubulointerstitial disease)

Unilateral atrophic kidney: multicystic kidney disease

Question 2

Notes Regarding Renal Cystic Disease

Answer 2

Classic ultrasound of CT findings:

Radially arrayed dilated collecting ducts spanning from cortex to medulla: ARPKD

“Paintbrush,” “bouquet of flowers”: MSK

Question 3

Notes Regarding Renal Cystic Disease

Answer 3

Associations:

Renal malignancy: von Hippel–Lindau disease (often bilateral involvement), tuberous sclerosis complex (TSC)

Seizures, mental retardation: TSC

Question 4

Notes Regarding Renal Cystic Disease

Answer 4

Associations cont’d:

Cerebral aneurysms: ADPKD

AML (may present with retroperitoneal bleed), angiofibromas: TSC

Kidney stones (uric acid): ADPKD

Multiple small medullary stones/nephrocalcinosis: MSK