Lecture 17: Genitourinary Disease

Question 1

Mechanism behind hereditary kidney cysts

Answer 1

Ciliopathy -> problems with fluid reabsorption, cell maturation

Question 2

Types of kidney cysts

Answer 2

1. Simple
2. Acquired
3. Autosomal dominant (adult) PKD
4. Autosomal recessive (childhood) PKD

Question 3

Simple cysts

Answer 3

Most common; cortical with clear fluid

Question 4

Acquired cystic kidney disease

Answer 4

Associated with long-term dialysis and ESRD

Question 5

Autosomal dominant (adult) PKD

Answer 5

• Bilateral expanding cysts damaging parenchyma
• Caused by mutations in PKD1/2 (Chr. 16, etc.)
• Mx causes cilia/mechanosensing defect

Question 6

Autosomal recessive (childhood) PKD

Answer 6

• Associated with PKHD1 gene defect (fibrocystin)
• Causes renal, liver, lung issues
• Stillbirth or low life expectancy

Question 7

Obstructive kidney disease causes

Answer 7

• Calculi
• Infections
• Long term renal atrophy
• Hydronephrosis
• Obstructive uropathy

Question 8

Types of obstructive kidney disease

Answer 8

1. Intrinsic ureter obstruction
2. Extrinsic ureter obstruction
3. Bladder outflow obstruction

Question 9

Intrinsic ureter obstruction

Answer 9

• Arises from within kidney
• Calculi, tumors, sloughed papillae

Question 10

Renal calculi

Answer 10

• Impaction causes renal colic
• Calcium oxalate or calcium phosphate
• Assoc. w/ hypercalciuria, solute concentration, pH, infection

Question 11

Extrinsic ureter obstruction

Answer 11

• Arises from outside the kidney
• Pregnancy, endometriosis, tumor metastasis
• Assoc. w/ sclerosing retroperitonitis (chronic fibrotic inflam.)
• Ureteral dilation

Question 12

Bladder outflow obstruction

Answer 12

• Most commonly caused by prostate hypertrophy (elderly males)
• Renal effects due to retrograde retention

Question 13

Hydronephrosis

Answer 13

• Renal pelvis/calyx dilation, glomerular degen., parenchymal atrophy
• Caused by urine outflow obstruction
• Many congenital or acquired causes: foreign bodies, proliferative lesions, inflam., nerve dmg., pregnancy
• Bilateral only if obstruct. below ureters -> renal failure

Question 14

Types of GU neoplasms

Answer 14

1. Renal cell carcinoma
2. Transitional cell carcinoma
3. Prostatic adenocarcinoma

Question 15

Renal cell carcinoma

Answer 15

3 forms:
1. Clear cell (65%)
2. Papillary RCC (10-15%)
3. Chromophobe RCC (5%)
- Assoc. w/ smoking, chr. 3/8/11 defects

Question 16

Clear cell carcinoma

Answer 16

• Can be sporadic, familial, or assoc. w/ von Hippel-Lindau disease
• Assoc. w/ VHL gene loss/inactivation (both copies, 3p chr. deletion)

Question 17

Papillary RCC

Answer 17

• Basophilic cells w/ papillary growth pattern
• Often trisomy; chr. 7q MET gene defect

Question 18

Chromophobe RCC

Answer 18

• Collecting duct intercalated cells w/ chr. deletions

Question 19

Transitional cell carcinoma

Answer 19

• Arises in bladder or renal pelvis to urethra
• Assoc. w/ naphol/phenol exposure
  3 pre-neoplastic changes:
  1. Carcinoma in situ
  2. Transitional epithelium hyperplasia
  3. Dysplasia

Question 20

Prostatic adenocarcinoma

Answer 20

• Small disorganized gland architecture w/ early peri-neural invasion
• Gleason system grading
• Precursor prostatic intraepithelial neoplasia