Renal Pathology Pt. 4

Question 1

what is renal agenesis?

Answer 1

bilateral is incompatible with life

unilateral - single kidney hypertrophies to compensate

Question 2

what is renal hypoplasia?

Answer 2

failure of the kidneys to develop to normal size

bilateral is possible but unilateral is more likely

Question 3

what is an ectopic kidney?

Answer 3

kidney not present at the usual paravertebral retroperitoneal site but present somewhere along the normal path of the ureter

Question 4

what is a potential complication of ectopic kidney?

Answer 4

infection due to obstruction

Question 5

what is a horseshoe kidney?

Answer 5

fusion of the lower or upper poles of the kidneys

Question 6

what are the cystic diseases of the kidney?

Answer 6

multicystic renal dysplasia
polycystic kidney disease
medullary cystic disease
acquired cystic disease
localized renal cysts
hereditary malformation syndromes
glomerulocystic disease
extra-parenchymal renal cysts

Question 7

what is adult/ AD polycystic kidney disease?

Answer 7

AD mutation in PKD1 (85%) or PKD2 (15%) which encodes polycystin

results in chronic renal failure beginning at age 40-60

Question 8

what morphological changes are associated with adult polycystic kidney disease?

Answer 8

large, multicystic kidneys
liver cysts
berry aneurysms

Question 9

what are the clinical features of adult polycystic kidney disease?

Answer 9

hematuria
flank pain
UTI
renal stones
HTN

Question 10

what is infant/ AR polycystic kidney disease?

Answer 10

AR mutation in PKHD1 encoding fibrocystin

may result in early death

Question 11

what are the morphological changes associated with AR polycystic kidney disease?

Answer 11

enlarged, cystic kidneys at birth

Question 12

what are the four clinical subtypes of AR polycystic kidney disease?

Answer 12

Perinatal * most common - death several hours after birth
Neonatal - death several months after birth
Infantile - death in early childhood
Juvenile - death during adolescence

Question 13

what is medullary sponge kidney?

Answer 13

benign medullary cysts on excretory urography

Question 14

what are the clinical features of medullary sponge kidney?

Answer 14

hematuria
UTI
recurrent renal stones

Question 15

what is juvenile nephronophthisis?

Answer 15

AR disorder

presents as progressive renal failure in childhood

Question 16

what are the morphological changes associated with juvenile nephronophthisis?

Answer 16

corticomedullary cysts

shrunken kidneys

Question 17

what are the clinical features of juvenile nephronophthisis?

Answer 17

salt wasting
polyuria
growth retardation

Question 18

what is adult-onset nephronophthisis?

Answer 18

AD

presents as chronic renal failure in adulthood

Question 19

what are the morphological changes associated with adult-onset nephronophthisis?

Answer 19

corticomedullary cysts

shrunken kidneys

Question 20

what are the clinical features of adult-onset nephronophthisis?

Answer 20

salt wasting

polyuria

Question 21

what are simple cysts?

Answer 21

benign cystic lesions within the kidneys causing microscopic hematuria

Question 22

what is acquired renal cystic disease?

Answer 22

cystic degeneration in end-stage kidney disease resulting in dialysis dependence

Question 23

what are the clinical features of acquired renal cystic disease?

Answer 23

hemorrhage
erythrocytosis
neoplasia

Question 24

what is multicystic renal dysplasia?

Answer 24

irregular kidneys with various sized cysts

associated with other renal anomalies

results in renal failure if bilateral
surgically curable if unilateral

Question 25

what are the major clinical features of AR polycystic kidney disease?

Answer 25

cystic collecting ducts | hepatic fibrosis

Question 26

what renal anomalies are commonly seen with multicystic renal dysplasia?

Answer 26

ureter agenesis ureteropelvic obstruction perinatal mass

Question 27

what is nephrolithiasis?

Answer 27

kidney stones

Question 28

who is prone to developing nephrolithiasis?

Answer 28

men between age 20-30

Question 29

what is the clinical presentation of nephrolithiasis?

Answer 29

renal colic ulceration and bleeding of ureter (hematuria) obstruction of urinary flow (anuria/oliguria)

Question 30

which size of stone is most hazardous: small or large?

Answer 30

small because they can enter the ureter

Question 31

what is the most common type of stone?

Answer 31

calcium oxalate and phosphate

Question 32

what predisposing condition is associated with calcium oxalate and phosphate stones?

Answer 32

idiopathic hypercalciuria

Question 33

what factors predispose a patient to kidney stone formation?

Answer 33

increased concentration of stone constitutes changes in urine pH decreased urine volume presence of bacteria

Question 34

generally, what is the clinical presentation of benign renal neoplasms?

Answer 34

rarely cause clinical problems and are usually discovered as incidental findings on imaging studies

Question 35

what is the most common benign kidney neoplasm?

Answer 35

renal papillary adenoma

Question 36

are renal papillary adenomas always benign?

Answer 36

no, once they are greater than 1 cm they are classified as low-grade renal cell carcinoma

Question 37

what is seen histologically in renal papillary adenoma?

Answer 37

acidophilic cytoplasm (not clear) papillae thin fibrovascular cores

Question 38

what is the origin of renal oncocytoma?

Answer 38

arises from intercalated cells of the renal cortical collecting ducts

Question 39

what is the clinical presentation of renal oncocytoma?

Answer 39

benign lesions without symptoms typically present in adulthood rarely become invasive/metastatic ddx: renal cell carcinoma

Question 40

what are the morphological features of renal oncocytoma?

Answer 40

mahogany-brown lesion that is well-circumscribed with central stellate scar

Question 41

what are the histological features of renal oncocytoma?

Answer 41

abundant acidophilic, granular cytoplasm | may show alveolar, nesting, tubular or solid pattern

Question 42

what condition are renal angiomyolipomas strongly associated with?

Answer 42

tuberous sclerosis complex (AD) | LoF mutation in TSC1 or TSC2 tumor suppresor genes

Question 43

what is the clinical presentation of renal angiomyolipomas?

Answer 43

may occasionally rupture and cause massive hemorrhage initial presentation may be hypovolemic shock

Question 44

what are the histological features of renal angiomyolipomas?

Answer 44

thick-walled blood vessels (angio) smooth muscle (myo) fat (lipo)

Question 45

what is the most common malignant tumor of the kidneys?

Answer 45

renal cell adenocarcinoma

Question 46

what risk factors are associated with RCC?

Answer 46

``` males age 60-80 cigarette smoking (2x) HTN obesity estrogens asbestos CKD tuberous sclerosis acquired cystic disease ```

Question 47

what hereditary conditions are associated with RCC?

Answer 47

Von Hippel-Lindau syndrome Hereditary clear cell carcinoma Hereditary papillary carcinoma

Question 48

what is the most common form of RCC?

Answer 48

sporadic clear cell (80%)

Question 49

hereditary clear cell carcinoma is associated with what mutations?

Answer 49

LoF VHL (tumor suppressor gene) due to deletion/translocation on short arm of Chr. 3

Question 50

what mutations are associated with sporadic and hereditary papillary renal cell carcinoma?

Answer 50

trisomy 7, 16 and 17 Loss of Y which results in activation of MET proto-oncogene

Question 51

what is the major morphological difference between sporadic and hereditary RCC?

Answer 51

hereditary forms have multiple lesions

Question 52

what is the classic triad of RCC presentation?

Answer 52

hematuria costovertebral pain palpable flank mass

Question 53

why is RCC considered one of the "great mimics"?

Answer 53

it has a tendency to cause systemic symptoms unrelated to the kidney reaches large size and metastasizes before local symptoms occur

Question 54

what type of RCC has the best prognosis?

Answer 54

chromophobe RCC

Question 55

what mutation is associated with chromophobe RCC?

Answer 55

Xp11 translocation

Question 56

what is the typical mode of spread for RCC?

Answer 56

hematogenous

Question 57

what are the morphological changes associated with RCC?

Answer 57

yellow-ish, spherical neoplasm in one pole of the kidney

Question 58

what histological changes are associated with clear cell RCC?

Answer 58

``` clear cytoplasm (collagen +lipid) sharply delineated cell membrane termed "hypernephroma" ```

Question 59

what histological changes are associated with papillary RCC?

Answer 59

papillae and foamy macrophages

Question 60

what histological changes are associated with chromophobe RCC?

Answer 60

pale, eosinophilic cells arranged in solid sheets well-defined cell membranes faintly granular cytoplasm with perinuclear clear halos cell concentrate around blood vessels

Question 61

what is urothelial carcinoma of the kidney?

Answer 61

cancer that originates from the urothelium of the renal pelvis associated with analgesic and tubulointerstitial nephropathy poor prognosis

Question 62

what is the clinical presentation of urothelial carcinoma?

Answer 62

hematuria may block urinary outflow ad cause hydronephrosis 50% of patients have concomitant bladder tumors

Question 63

what is the most common renal tumor in children?

Answer 63

Wilms Tumor

Question 64

what is the clinical presentation of a wilms tumor?

Answer 64

large abdominal mass pain microscopic hematuria HTN

Question 65

what familial syndromes are associated with Wilms tumors?

Answer 65

WAGR Denys Drash Beckwith-Wiedemann

Question 66

which familial syndromes are associated with a LoF mutation to WT1?

Answer 66

WAGR and Denys-Drash

Question 67

what is the presentation of WAGR?

Answer 67

genitourinary malformation | Wilms tumor

Question 68

what is the presentation of Denys-Drash?

Answer 68

Gonadal tumor gonadal dysgenesis early-onset nephropathy Wilms tumor

Question 69

what is the presentation of Beckwith-Wiedemann?

Answer 69

``` macroglossia organomegaly hemihypertrophy omphalocele adrenal cytomegaly wilms tumor ```

Question 70

what are the two histomorphologies of Wilms tumors?

Answer 70

typical triphasic | anaplastic

Question 71

which Wilms tumor histomorphology has a more favorable outcome?

Answer 71

typical triphasic

Question 72

what is seen on histology in a triphasic Wilms tumor?

Answer 72

spindle-shaped cells immature tubules densely packed small blue cells

Question 73

what morphological changes are associated with a wilms tumor?

Answer 73

well-circumscribed tan-grey color large, expansile tumor in the lower pole

Question 74

what is the most critical prognostic element for a wilms tumor?

Answer 74

presence or absence of diffuse anaplasia

Question 75

what primary cancers are known to metastasize to the kidneys?

Answer 75

``` breast lung melanoma GI pancreas ```