PATH - Renal Cyst Disorders

Question 1

Autosomal dominant

polycystic kidney disease

Answer 1

Numerous cysts in cortex and medulla causing bilateral enlarged kidneys ultimately destroy kidney parenchyma.

Presents with flank pain, hematuria, hypertension, urinary infection,
progressive renal failure in ~ 50% of individuals

Mutation in *PKD1 (85% of cases, chromosome 16) or *PKD2 (15% of cases, chromosome 4).

Associated with berry aneurysms, mitral valve prolapse, benign hepatic cysts

Death from complications of chronic kidney disease or hypertension

TX: ACE or ARBs

Question 2

Autosomal recessive

polycystic kidney disease

Answer 2

Cystic dilation of *collecting ducts

Often presents in infancy.

Significant oliguric renal failure in utero can lead to Potter sequence.

Associated with congenital
hepatic fibrosis.

Question 3

Medullary cystic disease

Answer 3

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

shrunken kidneys on ultrasound

Poor prognosis

Question 4

Simple renal cysts

Answer 4

Simple cysts are filled with ultrafiltrate (anechoic on ultrasound).

Very common and account for majority of all renal masses

Question 5

Complex renal cysts

Answer 5

including those that are septated, enhanced, or have solid components on imaging

require follow-up or removal due to risk of *renal cell carcinoma