May 16, 2016 - Cystic Renal Disease

Question 1

Cilia and Cysts

Answer 1

Dysfunction of cilia in the kidney leads to epithelial cell proliferation and the development of renal cysts.

Question 2

Simple Cysts

Answer 2

Normal and typically produce no symptoms.

Question 3

ARPKD

Answer 3

Far less common than ADPKD.

1:20,000 live births

Large kidneys with the main extrarenal manifestation of hepatic fibrosis.

Can present with oligohydramnios and potter sequence.

Question 4

Potter Sequence

Answer 4

A result of oligohydramnios, often seen in ARPKD.

A specific syndrome of the baby.

Question 5

ARPKD Treatment

Answer 5

Aggressive hypertension control

Treatment of CKD / Liver issues

Renal replacement

Question 6

Cystic Renal Dysplasia

Answer 6

Kidney contains primitive ducts and non-renal tissue such as cartilage, fat, hematopoeitic tissue, etc.

Some glomeruli are present, but not enough

Question 7

Multicystic Dysplastic Kidney (MCDK)

Answer 7

Abnormal nephrogenesis leads to atresia or absence of the ureter.

Kidney is replaced by numerous non-communicating cysts seperated by dysplastic tissue. This is a non-functioning kidney.

Usually good prognosis.

Question 8

Medullary Sponge Kidney

Answer 8

Cystic dilation of the collecting tubules.

Dilated collecting ducts causes a spongy appearance.

Usually no symptoms until 4th or 5th decade.

Question 9

Nephronophthiasis

Answer 9

Autosomal recessive.

Prominent in Huddarites.

Decreased urine concentrating capacity.

Question 10

Tuberous Sclerosis Complex

Answer 10

Multiple renal cysts and angiomyolipoma

Skin macules

Question 11

ADPKD

Answer 11

More common.

Bilateral, multiple cysts leading to expansion of total kidney volume.

Question 12

Genes in ADPKD

Answer 12

PKD1 - more severe disease

PKD2 - milder phenotype

Question 13

Extrarenal Manifestations of ADPKD

Answer 13

Intracranial “berry” aneurysms - most significant. 50% mortality and 50% of survivors are left with a significant disability.

Hepatic cysts

Pancreatic cysts

Splenic cysts

Cardiac valvular abnormalities

Seminal vesicle cysts

Colonic diverticula

Question 14

Diagnosis of ADPKD

Answer 14

Diagnosis relies on kidney imaging

Genetic testing is also available

Question 15

ADPKD - Therapeutic Options

Answer 15

1. Vasopressin receptor antagonists - block fluid movement into cysts which slows the decline in renal function, but has side effects
2. mTOR inhibitors (aren’t great)
3. Somatostatins - block cAMP formation inside cell

Question 16

ADPKD Management

Answer 16

1. Dietary and lifestyle changes
2. Genetic counseling
3. Control of HTN
4. Treat pain / cyst drainage
5. Treat UTI’s
6. Screen for cerebral aneurysm
7. Manage CKD
8. Manage extrarenal manifestations