5. Renal Path 3

Question 1

Agenesis of the kidneys is uncommon: bilaterally it is incompatible with life due to oligohydramnios causing potter’s sequence. unilateral agenesis is compatible with life but the kidney will undergo what?

Answer 1

hypertrophy and become enlarged, and increased risk of HTN

Question 2

Hypoplasia is failure of kidneys to develop to normal size, bilateral and unilateral(more common) are both rare, typically due to low birth weight and inc risk for chronic kidney disease, may cause torsion or obstruction of ureter predisposing them to?

Answer 2

pyelonephritis

Question 3

What type of kidney is not present at t10-L2 retroperitoneally, but present somewhere along the normal path of the ureter from kidney to bladder?

Answer 3

Ectopic kidney

MC site is pelvic brim associated with ureteral abnormalities, infection/obstruction

Question 4

What type of kidney is common, and caused by fusion of the kidneys producing a continous structure across the anterio of the aorta and IVC, *more commonly fused at lower poles (90%), *get caught by inferior mesenteric artery?

Answer 4

Horseshoe kidney

Question 5

Renal cysts are common, more than 50% of those over 50 have cysts in the parenchyma, which are often small and asymptomatic and are generally incidental findings but sometimes can become?

Answer 5

quite large

Question 6

When comparing unilateral to bilaterial renal cystic disease, what is the major deciding factor between bilateral and unilateral dz?

Answer 6

Bilateral are Hereditary/familiar

Unliateral are more commonly acquired

Question 7

What is an autosomal dominant cystic kidney disease which is a hereditary disorder characterized by multiple expanding cysts of both kidneys that ultimately destroy the renal parenchyma and cause renal failure?

Answer 7

AD (adult) polycystic kidney disease (ADPKD)

Question 8

AD (adult) polycystic kidney disease (ADPKD) begins in the 30-40s and definitely by age 70, the kidneys are markedly enlarged and may weigh up to 4kg each (15-20 times normal size), the cysts ultimately do what?

Answer 8

replace all functional cortex but scattered remnants of nephron units may be seen

Question 9

AD (adult) polycystic kidney disease (ADPKD) is an AD inheritance that still needs a ‘second hit’ in both alleles of PKD gene. What percent of people have defective PKD1 gene on chr 16, encodes for polycystin 1 (memebran glycoprotein) and have a higher change of ESRD?

Answer 9

85% of patients have the PKD1 on chr16 mutation

Question 10

the second mutation occurs in 15% of patients, defective PKD2 gene on chr 4, it codes for polycystin 2 which functions as?

Answer 10

Ca2+ permeable cation channel

Note: better prognosis cause lesser chance of ESRD than PKD1

Question 11

AD (adult) polycystic kidney disease (ADPKD) occurs in individuals of northern european ancestry. The cysts may be filled with clear, serous fluid or with turbid?

Answer 11

red to brown fluid (hemorrhagic fluid)

Question 12

The though path of ADPKD is mutations in polycystin 1/2 causes altered tubular cilia and altered calcium flux, causing altered tubular epithelial growth and differentiation, resulting in abnormal ECM, cell proliferation, fluid secretion which results in?

Answer 12

Cysts! causing interstitial inflammation and fibrosis as well as glomerular vascular damage

Question 13

ADPKD is most common in northern europeans and has accelerated progression in black males with sickle cell or HTN, usually presents in 4/5/6th decade with?

Answer 13

renal insufficiency

Question 14

AD (adult) polycystic kidney disease (ADPKD) may exhibit abdominal pain due to cyst enlargement and hemorrhage thus leading to what presentation?

Answer 14

hematuria (dont confuse with bladder dz!)

Question 15

There is often more aggresive/earlier onset in patients who are male with HTN (AA), there is overall an increase in UTI and?

Answer 15

nephrolithiasis in these patients

Question 16

There are commonly extra-renal manifestations with AD (adult) polycystic kidney disease (ADPKD); 40% have heptaic cysts, with other organs as well but lower frequency, 4-10% die from subarachnoid hemorrhage due to?

Answer 16

ruptured berry aneurysms of the circle of willis (basilar SAH in young patient = ADPKD)

Question 17

AD (adult) polycystic kidney disease (ADPKD) presents with mitral valve prolapse 25% of the time and 82% of patients have what disease of the colon?

Answer 17

Diverticular disease of the colon

Question 18

What is an autosomal recessive disease which is the childhood form of ADPKD?

Answer 18

AR polycystic kidney disease (ARPKD)

Question 19

in most cases AR polycystic kidney disease (ARPKD) is cause by what defective gene on chromosome 6, which encodes a large novel protein fibrocystin-but there are many other mutations?

Answer 19

PKHD1 on chr 6

Question 20

Mutations in fibrocystin disrupt the collecting tubule and biliary eptihelium differentiation. Grossly, they are slightly enlarged, smooth surface, with numerous small 1-2mm linear/radial arrayed?

Answer 20

cysts derived from dilated collecting ducts.

sponge appearance when cut

Question 21

AR polycystic kidney disease (ARPKD) is highly fatal in infancy, childhood form shows smaller cysts at right angle to cortical surface, survivors develop congenital?

Answer 21

hepatic fibrosis

Question 22

There are four different types of AR polycystic kidney disease (ARPKD), including perinatal, neonatal, infantile, and jevenile, which are the most common and what are the prognoses?

Answer 22

Most common perinatal and neonatal - all die relatively quickly

Question 23

What are the two types of medullary cystic diseases, including nephonopthisis cystic disease and?

Answer 23

medullary sponge kidney (benign)

Question 24

What kidney cysts occur in adults with unknown pathogenesis, found incidentally, scarring is absent, with cystic dilations that consist of cuboidal/transitional epithelium from collecting tubules (benign)?

Answer 24

Medullary sponge kidney

Question 25

What is a group of progressive diseases that are characterized by variable amounts of cysts in the medulla, typically concentrated at the corticomedullar junction?

Answer 25

Nephronophthisis and adult onset medullary cystic disease

Question 26

Nephronophthisis and adult onset medullary cystic disease has 3 forms, sporadic, familial/juvenile (MC-AR), and renal retinal dysplasia which generally present initially with polyuria and?

Answer 26

polydypsia

Question 27

Nephronophthisis and adult onset medullary cystic disease as a group are considered to be the MC *genetic cause of ESDR in?

Answer 27

adolescents and young adults

Question 28

in Nephronophthisis and adult onset medullary cystic disease, renal failure occurs secondary to progressive cortical tubulointerstitial damage, what are the two mutations known to cause this disease?

Answer 28

MCKD1 and MCKD2

Question 29

Nephronophthisis and adult onset medullary cystic disease has small kidneys with contracted granular surfaces, large cysts at the cortico-medullary junction and small cysts?

Answer 29

in the cortex

Question 30

what is a sporadic disorder that can be unilateral or bilarteral and almost always cystic. In unilateral dysplasia may mimic neoplasm and lead to surgical exxploration - excellent prognosis?

Answer 30

multicystic renal dysplasia

Question 31

multicystic renal dysplasia is also bilateral which causes renal failure and has a bad prognosis. The kidneys are enlarged, extremely irregular and multi cystic, presence of islands of undifferentiated mesenchyme with cartilage and immature collecting ducts, clinical respents as???

Answer 31

adbominal mass

Question 32

What is caused by end stage kidney disease with prolonged dialysis, cortical and medullary cysts that contain clear fluid but may bleed, whose cysts are lined by hyperplastic or flattened tubular epithelium with calcium oxalate crystals?

Answer 32

Acquired (dialysis assocatied) cystic dz

Question 33

What is a clinically significant complication in the setting of calcium oxalate stones in a patient receiving dialysis?

Answer 33

renal cell carcinoma (7% chance in pts dialyzed for 10+years)***

Question 34

What usually are single or multiple, occur on the renal cortical surface commonly 1-5cm, generally filled with clear fluid, sometime get mistaken for tumors ?

Answer 34

Simple renal cysts (benign)

Question 35

Multicystic renal dysplasia in most cases have an absent ureter, ureteropelvic obstruction or other?

Answer 35

lower GU anomalies | rather common mass

Question 36

Obstructive lesions of the urinary tract increase chance of infection and to stone formation, and unrelieved obstruction almost always leads to permanent renal atrophy termed?

Answer 36

hydronephrosis or obstructive uropathy

Question 37

Common causes of urinary tract obstructions include congenital anomalies such as posterior urethral valves, urinary calculi, BPH, pregnancy or even?

Answer 37

tumors

Question 38

What term is used to describe dilation of the renal pelvis and calyces associated with progressive atrophy of the kidney due to obstruction to the outflow of urine?

Answer 38

Hydronephrosis

Question 39

What type of obstruction may provoke pain from distention?

Answer 39

Acute obstruction

Question 40

What type of obstruction can remain silent for long times as the other kidney compensates?

Answer 40

Unilateral complete or partial hydronephrosis

Question 41

What type of obstruction causes the inability to concentrate urine (polyuria), distal tubular acidosis, renal salt wasting, renal calculi, and chronic tubulointerstitial nephritis with scarring and atrophy of the papilla and medulla, HTN is common?

Answer 41

Bilateral partial obstruction

Question 42

What type of obstruction causes oliguria/anuria, incompatible with survivial unless the obstruction is relieved, after removal of block-kidney must undergo diuressis where kidney excretes urine rich in NaCl?

Answer 42

Bilateral complete obstruction

Question 43

What affects 5-10% of americans, usually unilateral (80%), men affected more than women, during ages 20-30?

Answer 43

Urolithiasis/Nephrolithiasis

Question 44

The most important determinant of Nephrolithiasis is an increased urinary concentration of the stones constituents such that it exceeds their solubility in urine, aka ?

Answer 44

supersaturation

Question 45

Kidney stones become symptomatic when they enter the ureter and cause intense pain (renal colic), ulceration and bleeding of ureter mucosa or?

Answer 45

obstruction of urinary flow

Question 46

What is the most common type of stone, associated with hypercalciuria and with or without hypercalcemia, but when both are present, it is a result of hyperparathyroidism which can be a result of progressive kidney failure?

Answer 46

Calcium Oxalate stones (calcium and oxalate)

Question 47

What type of kidney stone caused by urea splitting bacteria (proteus/staph) forms the largest kidney stones called staghorn calculi- occupying renal pelvis?

Answer 47

Struvite stones (staghorn caused by infection)

Question 48

What type of stone is common in patietns who have hyperuricemia such as gout or leukemia, forming a LOW (acidic) urinary pH, you need to alkalinize the urine to solubulize the stone and pee it out (give bicarb)?

Answer 48

Uric acid stones (radiolucent unlike Ca stone)

Question 49

What type of stones are formed with genetic disease like cystinuria that prevent reabsorption of proteins from the lumen, *form at low / acidic urinary pH?

Answer 49

Cystine Stones

Question 50

What is the most common benign renal neoplasm, which like most other b9 lesions rarely cause clinical problems and are discovered incidentally, and are small (less than cm) but sometimes like oncocytomas or angiomyolipomas can measure 10cm+?

Answer 50

Renal papillary adenoma

Question 51

Renal papillary adenoma is defined by a size of being less than 1.0cm, any neoplasms greater than 1cm with adenoma histomorphology are usually classified as?

Answer 51

low grade renal cell carcinoma

Question 52

Renal papillary adenomas are common incidentally found during autopy 40% in 70y/o+, RCC is relatively uncommon, grossly you can see a cortical, discrete, yellow-grey which may be?

Answer 52

small and multiple

Question 53

On LM Renal papillary adenoma shows complex, branching papillomatous structures, cells are cuboidal- no atypia, thin fibrovascular cores, these lesions have cytogenic features of?

Answer 53

Trisome 7/17

Question 54

What neoplasm has a strong association with tuberous sclerosis (AD loss of TSC1/2), present in adults, middle aged, F>M?

Answer 54

Renal angiomyolipoma

Question 55

Renal angiomyolipoma are benign neoplasms consisting of vessels, smooth muscle, and fat from the perivascular epitheliod cells, sometimes they may rupture and have massive hemorrhage so initial presentation may be?

Answer 55

shock secondary to massive retroperitoneal and or intra-abdominal hemorrhage

Question 56

What is an eptihelial neoplasm/benign tumor composed of large eosinophillic cells with small round benign looking nuclei that have large nucleoli? (**massive amounts of mT)

Answer 56

renal oncocytoma

Question 57

renal oncocytoma arise from type A intercalated cells of renal cortical collecting ducts, typically present in adulthood, rarely familial (but if it is its bilateral), Clinically ddx with RCC and non-clear cell, it has rare?

Answer 57

invasion/metastasis

Question 58

renal oncocytoma are typically mahogany brown and well circumscribed, may be quite large (1o-15cm) may look like a RCC, but often has a central?

Answer 58

stellate scar

Question 59

On LM, renal oncocytoma has abundant acidophilic granular cytoplasm and may show alveolar, nesting, tubular or?

Answer 59

solid pattern | **EM packed with mT

Question 60

What can one expect on LM in renal angiomyolipoma?

Answer 60

thick waled blood vessels (angio) smooth muscle (myo) fat (lipoma)

Question 61

What is an adenocarcinoma of the kidney that is unusual but MC adult kidney cancers seen in 6-8th decade, 2:1 MtoF?

Answer 61

Renal cell carcinoma RCC

Question 62

Renal cell carcinoma RCC are mainly idiopathic with some familial mutations to consider, arise from renal tubular epithelium, what is the greatest risk factor, and others including obesity, HTN, estrogen, asbestos?

Answer 62

SMOKING CIGARETTES

Question 63

in Renal cell carcinoma RCC the poles are most commonly affected and 4% are hereditary, AD, seen in younger patients. What syndrome causes most hereditary RCCs, causing bilateral RCC and cysts with cerebellar involvement!?

Answer 63

Von Hippel Lindau VHL syndrome

Question 64

What is an AD disorder with mutations in FH gene (fumarate hydratase) causing cutaneous and uterine leiomyomata with an aggressive type of papillary carcinoma with icnreased risk for metastatic spread?

Answer 64

Hereditary Leiomyomatosis and RCC syndrome

Question 65

What is AD caused my mutations in MET proto-oncogene, resulting in many bilateral tumors with papillary histology?

Answer 65

Hereditary papillary carcinoma

Question 66

What is the MC type of RCC, 95% sporadic, 98% of familial caused by a loss on chr 3 where the VHL gene is, causing unliateral tumors?

Answer 66

Clear Cell carcinoma

Question 67

Clear Cell carcinoma form from proximal tubular epithelium presenting with large clear or granular cells, bright yellow-grey- white spherical mass, they are likely to invade the renal vein and may go to the heart, causes what if it is on the left?

Answer 67

varicocele

Question 68

What type of RCC is multifocal in origin with a better prognosis, less common, associated with Trisomy 7, 16, 17 and loss of Y in males (MET proto oncogene), associated with *dialysis associated cystic disease*?

Answer 68

Papillary carcinoma

Question 69

On LM in Papillary carcinoma, they are cuboidal or columnar epithleium arranged in papillary pattern that came from distal convoluted tubules, there is little strom but is highly vascularized, with what type of cells in the core?

Answer 69

foam cells are common in the core

Question 70

What type of RCC is uncommon and has a pale eosinophilic cytoplasm, nuclear halos, arising from type B intercalated cells of renal cortex collecting ducts?

Answer 70

Chromophode renal carcinoma

Question 71

Chromophode renal carcinoma have excellent prognosis but may be hard to differentiate from?

Answer 71

oncocytoma (grow from intercalated cells as well)

Question 72

What type of carcinoma occurs in young patients due to translocations at the TFE3 gene and have cells with clear cytoplasm with papillary architecture in the medulla?

Answer 72

Xp11 translocation carcinoma

Question 73

In sporadic papillary carcinoma, it is one lesion associated with trisomy 7,16,17 Loss of Y and mutated/activated MET, What is seen in hereditary papillary carcinoma?

Answer 73

multiple lesions due to trisomy 7 and mutated MET

Question 74

In sporadic clear cell carcinoma there are deletions on chr3, loss of VHL, with one lesion only, in hereditary which accounts for 4% of clear cell carcinomas, what can be seen?

Answer 74

MULTIPLE lesions due VHL loss

Question 75

RCC is often asymptomatic, discovered by CT or MRI for nonrenal cause, may reach 10cm before symptoms occur. What is the common triad of symptoms?

Answer 75

Hematuria** (50%) microscopic only Costovertebral pain (20%) Palpable flank mass (10%)

Question 76

RCC tend to reach large sizes and metastasize before local signs and symptoms, then generalized non specific symptoms occur such as malaise, weakness, fever and?

Answer 76

weight loss

Question 77

25% of RCC patients have evidence of metastatic disease at the time of initial diagnosis to lung bone LN, liver, adrenal and brain. RCC is known as a great mimic for what?

Answer 77

it has many paraneoplastic syndromes ***

Question 78

RCC has paraneoplastic syndromes such as polycythemia, hypercalcemia, HTN, cushings, leukemoid rxn, feminization/ masculization and?

Answer 78

amyloidosis

Question 79

Major factors in prognosis include stage (NOTE: spreads hematogenously not via LN) and histologic type; chromophobe is good prognosis, papillary and clear cell are average and what are worse?

Answer 79

collecting duct sarcomatoid medullary

Question 80

RCC typicall travels up the inferior vena cava to the heart, where it usually extends from the IVC into?

Answer 80

the wall of the right atrium

Question 81

RCC clear cell type aka hypernephroma, shows optically clear cytoplasm and sharply delineated cell membrane, clear cytoplasm is due to glyocgen and?

Answer 81

lipid accumulation | PAS+, OilRedO+, Sudan Black +

Question 82

What is a defining characterist of chromophobe renal cell carcinomas along with thewell defined cell membranes, faintly granular cytoplasm?

Answer 82

perinuclear clear halos!

Question 83

What rare type of RCC is composed of spindle cells simulating a mesenchymal neoplasm, and if this component arises in any RCC it implies poor prognosis?

Answer 83

Sarcomatoid renal cell carcinoma

Question 84

What rare type of RCC shows branching tubules lined by highly atypical cuboidal cells?

Answer 84

Collecting duct carcinoma

Question 85

What carcinoma originates from the urothelium of the renal pelvis and may be multiple and 50% of patients have concomitant bladder tumors, associated with analgesic and balkan (tubulointerstitial) nephropathy?

Answer 85

urothelial (transitional cell) carcinoma of the kidney

Question 86

urothelial (transitional cell) carcinoma of the kidney is usually smll when discovered, may block urinary outflow and lead to palpable hydronephrosis and flank pain, infiltration of the wall of pelvis/calyces is frequent with what clinical symptom?

Answer 86

Painless Hematuria (general poor prognosis)

Question 87

What is the biggest risk factor for Urothelial carcinoma of the pelvis?

Answer 87

SMOKING

Question 88

What tumor is common in asians>whites> blacks, 4th most common childhood malignancy with peak between 2-5 years, discovered as a large abdominal mass with pain, microscopic hematuria, and HTN?

Answer 88

Wilms Tumor (5-10 percent are bilateral)

Question 89

10% of patients associated with specific types of congenital malformations or familial syndromes, chr11 abnrl, WT1 mutations or loss/2nd hit. What syndrome has wilms tumors 30-44% of the time along with wilms, aniridia, genital problems and retardation?

Answer 89

WAGR (chr11-WT1 mutation)

Question 90

What syndrome which has wilms tumors 90% of the time also presents with gonadal and renal tumors, associated with chr11?

Answer 90

Denys-Drash Syndrome (chr11 WT1 mutation)

Question 91

What syndrome is a non-WT1, poss WT2 syndrome with IGF 2?

Answer 91

Beckwith-Wiedemann Syndrome

Question 92

If not one of the three syndromes, wilms tumors are previously health children with no congenital abnormalities or syndromes, 10% have WT1 mutation and 10% have?

Answer 92

B-catenin mutation

Question 93

What syndrome is most commonly observed genitourinary malformation in affected males =undescented testes whereas females may be affected with streak gonads or uterine malformations?

Answer 93

WAGR

Question 94

What syndromic wilms tumor will most commonly have gonadal tumors too?

Answer 94

Denys-Drash

Question 95

What syndromic wilms tumor will have hemihypertrophy as well as macroglossia?

Answer 95

Beckwith Wiedemann Syndrome

Question 96

Wilms tumors on LM are associated with nephrogenic rests (precursor lesion)- 25-40% are unilateral and 100% bilateral- meaning look out for that other kidney cause its probs bad too! What are the two types of histomorphology?

Answer 96

``` Typical triphasic (favorable) Anaplastic (unfavorable) ```

Question 97

Typical triphasic has blastemal (small blue cells densely packed), epithlial tubules, and stromal cells (spindle shaped), the majority have all three cell types (triphasic) monophasic variants therefor may present diagnostic difficulties. There is no significant?

Answer 97

anaplasia

Question 98

Anaplastic histo (bad) may be focal or diffuse with extreme cellular pleomorphism and atypia, focal anaplasia doesnt always mean poor prognosis, diffuse does. Anaplasia tends to be associated with p53 mutations and resistance to?

Answer 98

chemotherapy

Question 99

Wilms tumors grossly are well circumscribed, tan to gray color, large expansil tumor usually in what part of the kidney?

Answer 99

The lower pole of the kidney

Question 100

What is the most critical prognostic element for wilms tumors of the kidney?

Answer 100

whether there is presence or absence of diffuse anaplasia (BAD)

Question 101

What are the four MC malignant neoplasms of infancy?

Answer 101

leukemia retinoblastoma neuroblastoma Wilms tumor

Question 102

Are the following characteristics favorable or unfavorable for neuroblastomas? Stage 1,2A,2B,4S <18months Scwannian stroma and ganliocytic different. mitosis-karryorrhexis < 200/5000cells Hyperdiploidy TRkA expression present

Answer 102

Favorable

Question 103

Are the following characteristics favorable or unfavorable for neuroblastomas? Stage 3/4 older than 18months Scwannian stroma and ganliocytic differentiation not present mitosis-karryorrhexis >200/5000cells near diploid (segmental chromosomal losses w chromothripsis) MYCN amplified Chr 1p loss Chr 11q loss TRKB expression Mutations of neuritogenesis genes

Answer 103

BAD- Unfavorable

Question 104

Metastasis to the kidney is uncommon and often a terminal even, frequently multifocal and bilateral seen from lung, melanoma, breast, GI and ?

Answer 104

Pancreas