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CPR Exam 2 > 20.4 Congenital Disorders of the Kidney > Flashcards

20.4 Congenital Disorders of the Kidney Flashcards

1
Q

Bilateral agenesis of kidneys is found in _________.

A

Stillborn infants.

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2
Q

What population of people is more likely to get vascular diseases that affect the kidney?

A

1. DM

2. HTN

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3
Q

Disorders of the kidney that are inherited/acquired will affect BOTH kidneys.

A

Inherited (AD/AR)

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4
Q

Disorders of the kidney that are inherited/acquired will affect one kidney.

A

Acquired

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5
Q

What occurs to the other kidney as a result of unilateral agenesis?

A

Compensatory hypertrophy, causing an increase risk of HTN.

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6
Q

A infant that livess will have _______ agenesis. Why?

A

Unilateral, bilateral agenesis is not compatible with life

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7
Q

Unilateral agenesis can develop into ____________.

A

Progressive glomerulosclerosis => CKD

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8
Q

True renal hypoplasia is most often observed in ___________.

Bilateral or unilateral?

May contribute to an increased lifetime risk for?

A
  • Low-birth weight infants.
  • Unilateral
  • CKD
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9
Q

Ectopic kidneys generally move where?

A

Somewhere along the path of the ureter: from kidney to bladder.

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10
Q

Where is the most common location of Ectopic Kidneys?

May lead to what issues?

A
  • Above pelvic brim or in pelvis.
  • Kinked uterus that can lead to obstruction of urinary flow and bacterial infections
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11
Q

Fusion in horshoe kidneys is most common at the _____ poles of the kidney.

What do they get caught by?

A

Lower.

Infererior mesenteric artery.

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12
Q

Are renal cysts common?

Describe them.

A

Yes! 50% of people over 50 have cysts in the renal parenchyma that are small, filled with serous fluid and asymptomatic.

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13
Q

How are renal cysts found and do they stay the same size?

A

Incidental; no, they can get large.

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14
Q

If we have a test question where BOTH kidneys have cysts, what is our differential diagnosis?

A
  1. Adult polycystic kidney disease (AD)
  2. Infant/childhood polycystic kidney disease (AR)
  3. Familial juvenile nephronophthisis (AR)
  4. Adult-onset nephronophthisis (AD)
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15
Q

If we have a test question where ONE kidney has cysts, what is our differential diagnosis?

A
  1. Medullary sponge disease
  2. Simple cysts
  3. Acquired renal cystic disease
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16
Q

What cystic disease is common, occuring in 1-400/1000 births?

A

Adult polycystic kidney disease.

These patients make up 5-10% of patients with chronic renal failure.`

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17
Q

adult polycystic kidney disease (APKD): inherited or acquired?

A

Inherited: AD

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18
Q

What is adult polycystic kidney disease (APKD):

A

Inheritance (AD) of multi-cystic, bilateral kidneys that enlarge => destroys parenchyma => renal failure.

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19
Q

In ADPKD, what is the size of the kidneys?

A

15-20x larger (4Kg) than normal

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20
Q

Although inherited, why does ADPKD occur at ages ______?

A
  • 30-40 YO
  • Cysts get so large, replace all functional cortex and cause renal failure. However, some nephrons can be seen.
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21
Q

Who is more likely to get ADPKD?

A

White adults

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22
Q

Mutation in which gene and on which chromosome account for 85% of ADPKD cases?

Mutation in which gene and on which chromosome account for 15% of ADPKD cases?

A
  • PKD1 on chromosome 16p13.3
  • PKD2 on chromosome 4q13-p23
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23
Q

There is an overall increased incidence of ____ and ____ in pts with ADPKD?

A

Nephrolithiasis

UTI

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24
Q

How does the severity of disease and progression to complications differ between ADPKD pts with a PKD1 vs. PKD2 mutation?

A
  • PKD1 = more severe, renal failure occurs earlier (95% by 70 yo)
  • PKD2 = somewhat better prognosis; less risk of renal failure, at least earlier on.
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25
Q

PKD1 codes for ________, which has a role in ________.

A

polycystin 1, a integral membrane glycoprotein.

Cell-cell interaction or cell-matrix interaction

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26
Q

PKD2 codes for ________.

ADPKD mutation of PKD2 causes what?>

A

polycystin 2, a Ca2+ ion channel.

fucks w regulation of intracellular Ca2+

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27
Q

_____ mutations have a 45% chance of developing ESRD by 70.

A

PDK2

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28
Q

What is the typical clinical course of ADPKD and how does it typically present?

A
  • Generally asymptomatic w/ insidious onset in 4th-6th decade w/ renal insufficiency (HTN, azotemia)
  • Some exhibit abd. pain due to cyst enlargement and hematuria due to hemorrhage
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29
Q

There is a more aggressive (earlier onset, more severe) clinical course in which patients w/ ADPKD?

A
  • Blacks (esp those with sickle cell trait)
  • Men
  • Those with concommitant HTN
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30
Q

What are the clinically significant extra-renal manifestations of ADPKD?

A
  • Hepatic cysts (40%); less common in spleen, pancreas, and lung
  • Berry aneurysms –> subarachnoid hemorrhage, causing death in 4-10% of pts
  • Mitral valve prolapse (25%)
  • Diverticular dz of colon (82%)
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31
Q

How do most people with ADPKD die?

A
  • Coronary or HTN disease
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32
Q

In summary, what are the pathological features of ADPKD?

A
    1. Large, multicystic bilateral kidneys
    1. Hepatic cysts
    1. Berry aneuryisms cause subarachnoid hemorrhage in 4-10%
    1. Mitral valve prolopse
    1. Diverticular disease.
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33
Q

Most cases of Autosomal recessive polycystic kidney diases (ARPKD) are due to mutation in which gene and on what chromosome?

A
  • PKHD 1, but so many mutations occur which is why there are many clinical presentations.
  • Chromosome 6
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34
Q

ARPKD occurs in _____.

A

Children

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35
Q

How are the kidneys/cysts in ARPKD different from ADPKD?

A

Slightly enlarged kidneys and cysts are small and radially oritented, from the dilated collecting ducts.

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36
Q

Where are the cysts seen in ARPKD derived from?

A

Dilated collecting ducts

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37
Q

How is the surface of the kidney in ARPKD different from ADPKD?

A

Enlarged and smooth,

as opposed to enlarged and cystic in ADPKD.

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38
Q

What are the 4 clinical subtypes of ARPKD?

Which are the most common?

A
  • 1. Perinatal (MC)
  • 2. Neonatal (2nd most common)
  • 3. Infantile
  • 4. Juvenile
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39
Q

Describe the clinical course of ARPKD.

  • Perinatal form = most common; survival only a few hours; death due to pulmonary hypoplasia
  • If survive infancy develop congenital hepatic fibrosis —> portal HTN and splenomegaly
A

Many neonates do not survive ARPKD d/t other assx anomalies.

  1. Perinatal ARPKD: 90% of CD are cystic; child only survives a couple of hours d/t minimal hepatic fibrosis and hypoplastic lungs
  2. Neonatal.
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40
Q

Describe the perinatal and neonatal forms of ARPKD.

A

Many neonates do not survive ARPKD d/t other assx anomalies.

  1. Perinatal ARPKD: 90% of CD are cystic; minimal hepatic fibrosis; child only survives a couple of hours d/t hypoplastic lungs
  2. Neonatal ARPKD: 60% of CD are cystic; mild hepatic fibrosis: child only survives for a couple of months d/t renal failure
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41
Q

Describe the infantile and juvenile forms of ARPKD.

____ % CD are cystic

Liver abnormalities: ___________

Death: _______

A
  • Infantile: 20% of CD are cystic; liver fibrosis/liver failure: pt develops portal HTN and systemic HTN, but dies early in childhood .
  • Juvenile: 10% of CD are cystic: progressive hepatic fibrosis, resulting in portal HTN with esophageal varices (most salient clinical problem)
    • Most do not survive adolescence.
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42
Q

If a patient with ARPKD presents with portal HTN and esophageal varices, what subtype do they have?

A

Juvenile

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43
Q

What are the 3 major subtypes of medullary cystic diseases (cysts of the medulla)?

A

1. Medullary sponge kidney

2. Nephronophthisis

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44
Q

What is medullary sponge kidney?

Who gets them?

A
    • Adults
  • - Incidental radiographic finding of multiple cysts located at the corticomedullary junction (mostly in medulla)
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45
Q

Is medullary sponge kidney inherited or acquired, thus, affect ______ kidney

A
  • Acquired
  • One
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46
Q

How is the size of the kidney affected in medullary sponge kidney and what is the outcome?

A
  • NL size
  • Benign outcome; no renal problems
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47
Q

What are Simple Cysts of the kidney?

Significance?

A
  • Single (sometimes multiple) clear fluid-filled cysts that occur on the CORTEX of NL sized kidney, often found after death
  • They have no clinical significance.
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48
Q

Are simple cysts of the kidney acquired/inherited, thus occuring where both or one kidney?

A
  • Acquired
  • One kidney
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49
Q

What are the complications of single cysts of the kidney and what is the outcome?

A
  • MAYBE microscopic hematuria
  • No clinical significance
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50
Q

What type of cysts are associated with pts w/ ESRD who have undergone prolonged dialysis and sx’s?

A

Acquired renal cystic disease

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51
Q

Describe the cysts/kidneys seen in acquired renal cystic disease.

A

Many small, cysts with clear fluid in the cortex or medulla of ONE kidney.

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52
Q

Patients with acquired renal cystic disease will show what symptoms?

Acquired renal cystic disease is associated with ________.

Outcome?

A
  • Hemorrhage, erythrocytosis, neoplasia
  • Development of renal cell carcinoma
  • Depends on dialysis
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53
Q

Acquired renal cystic diseases has many small fluid filled cysts that often contain what?

A

Calcium oxalate crystals (dialysis pts)

In general population, calcium phosphate stones are most common.

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54
Q

How big are the kidneys in acquired renal cystic disease?

A

NL sized

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55
Q

Muliticystic renal dysplasia is often unilateral/bilateral.

A

Unilateral

Rarely, it can be familial and be bilateral.

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56
Q

Is congenital always inherited?

A

No, it can be sporadic.

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57
Q

How is Multicystic Renal Dysplasia acquired and how is it discovered?

A

Sporadic (non-familial congenital), discovered as a abdominal mass in the perinatal period (around birth).

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58
Q

Describe the cysts in multicystic renal dysplasia.

A

Multiple, different-sized cysts

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59
Q

What is the characteristic histological finding of Multicystic Renal Dysplasia?

A
  • Islands of undifferentiated mesenchyme (CT) that is often cartilage
  • Immature collecting ducts
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60
Q

Most cases of Multicystic Renal Dysplasia are associated what anomalies?

A
  1. Agenesis of ureter (no ureter)
  2. Uteropelvic obstruction
  3. Other lower GU abnormalities
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61
Q

What is the typical outcome of CHILDREN with multicystic renal dyplasia?

A

Have a NL life expectancy :)

62
Q

If we have an abdominal mass, what is in our DDx?

A
  • 1. Neuroblastoma
  • 2. Wilms tumor
  • 3. Unilateral multicystic renal dysplasia
63
Q

What is the significance of unilateral Multicystic Renal Dysplasia, especially in a child and its prognosis?

Bilateral?

A
  • Unilateral = abd. mass in child may mimic a neoplasm. Surgically removed via nephrectomy = excellent prognosis
  • Bilateral will eventually progress to renal failure
64
Q
  • Obstructive urinary lesions (OUL) can lead to
A
  • Infection and form stones
  • Almost always leads to permanent renal atrophy (hydronephrosis or obstructive uropathy)
65
Q

What is hydronephrosis?

A

Swelling of the kidney (d/t dilation of the renal pelvis and calyces) due to obstruction of urine flow.

  • Associated with: progressive atrophy of the kidney
66
Q

Obstruction initially causes?

Eventually progresses to?

A
  • Problem concentrating urine
  • Decrease in GFR
67
Q

Which imaging technique is useful for diagnosis of obstructive uropathy?

A

Ultrasound

68
Q
  • Unilateral complete or partial hydronephrosis signs.
A
  • can remain silent for long times as the other kidney compensates
69
Q

What are the early vs. late mophological features of Hydronephrosis?

A
  • Early = dilation of the pelvis and calyces, may be significant interstitial inflammation
  • Later = atrophy of cortical tubules+ diffuse interstitial fibrosis
70
Q

In advanced cases of Hydronephrosis what morphological changes are seen in the kidney?

A
  • Kidney = turn into thin-walled & cysts form
  • Striking parenchymal atrophy
  • Total obliteration of pyramids + cortex thins
71
Q

Is Nephrolithiasis (aka kidney stones) typicall bi- or unilateral?

Sex most often affected and at what age?

A
  • Unilateral
  • Males
  • 20-30 YO
72
Q

Is there a familial or hereditary predisposition to developing nephrolithiasis?

73
Q

What are 4 predisposing that influence the development of calculi (stones) in the urinary tract?

A
  1. Increased concentration of stone constituents
  2. Changes in urinary pH
  3. Decreased urine volume
  4. Presence of bacteria
74
Q

What is the most important determinant of developing kidney stones?

A

Increased urinary concentration of the particles that make up a stone, causing it not to solubulze in the urine.

75
Q

Nephrolithiasis (kidney stones) are most often made in the kidney as a result of increase concentration of particles that are filtered out.

When do they become symptomatic and what sx do they cause?

A
  • When they NTR the ureter
  • Cause:
    • Renal colic (intense pain)
    • Ureter mucosa (calyceal) will bleed and ulcerate
    • Obstruct urinary flow.
76
Q

Are large or small stones more dangerous?

A

Smaller, jagged: they can NTR the ureter and cause smooth muscle in ureter to spasm => (renal colic)

77
Q

What are the 4 main types of renal calculi?

A
  1. Calcium oxalate and phosphate (70%)
  2. Magnesium-ammonia-phosphate: struvite (15-20%)
  3. Uric acid stones
  4. Cystine
78
Q

Struvite stones, made of magnesium ammonium phosphate stones are formed largely due to?

Size of stone and form what?

A
  • After infection by bacteria that split- urea (i.e., Proteus and some staphylococci)
  • Some of the largest stones form staghorn calculi, occupy renal pelvis
79
Q

What is important to take into consideration about the development of Uric Acid stones?

A
  • Common in ppl w/ gout, and diseases such as leukemia
  • BUT, more than 1/2 of pts dont have hyperuricemia nor increased excretion of uric acid
80
Q

What is the favored sites within the urinary tract for the formation of stones?

A
  • Renal calyces and pelvis
  • bladder
81
Q

Heritidary/familial cancers are most commonly going to be?

A

1. Bilateral

2. Multi-centric (have multiple lesions)

82
Q

What is the most common malignant tumor of the kidney in both adults and in children?

A
  • Adults = Renal Cell Carcinoma (1st) and Urothelial Carcinomas of the Calyces and Pelvis (2nd)
  • Children = Wilms Tumor
83
Q

What is the most common benign neoplasm of the kidney?

Arise from what cell?

A
  • Renal papillary adenomas
  • Renal tubular epithelium
84
Q

What are benign neoplasms of the kidney?

A
    1. Renal papillary adenoma
    1. Angiomyolipoma
    1. Oncocytoma
    1. Renal fibroma or hamartoma
    1. Juxtaglomerular cell tumors (produce renin)
    1. Other stromal or mesenchymal tumors
85
Q

What can we generalize about the vast majority of benign renal neoplasms?

A
  • Rarely cause clinical problems
  • Usually discovered incidentally
  • Are small (but sometimes oncocytomas or angiomyolipomas can be 10 cm or more)
86
Q

How do we assess whether a neoplasm is [renal papillary adenoma] or [renal cell carcinoma]?

A
  • SIZE
    • ​Less than 1cm: benign renal papillary adenoma
      • some pathologists say less than 3cm
    • More than 1cm: low-grade renal cell carcinoma
  • Thus, if we see a small neoplasm, we assume its benign, but all can be “potentially malignant”.
87
Q

Describe the morphology (i.e., size, shape, location, and color) of Renal Papillary Adenomas?

A
  • Small, within cortex
  • Yellow-gray, well-circumscribed nodules (can be many)
88
Q

What is the histopathology of renal papillary adenoma?

A
  • LM: Branching, papilloma-looking structures w/ cuboidal to polygonal cells; no atypia
  • EM: look like low grade renal cell carcinoma
    • ​Acidophillic cytoplasm
    • Papillae
    • Thin fibrovascular cores
89
Q

Renal papillary adenomas share what similar cytogenetic features that are also present in low-grade RCC?

A

Trisomy 7 and 17

90
Q

What are a common incidental autopsy findings (7-22% of cases) and 40% in poeple over 70?

A

Renal papillary adenoma

91
Q

Which benign neoplasm of the kidney is highly associated with Tuberous Sclerosis?

A

Renal angiomyolipomas

92
Q

Tuberous Sclerosis has what type of inheritance?

Manifests as a complex of what type of disorders?

A
  • Autosomal Dominant
  • Tumors or lesions of: brain, skin, kidney, lungs, and eyes
93
Q

Renal angiomyolipomas are also called what?

A
  • Renal fibroma
  • Harmatoma
94
Q

What is a renal angiomyolipoma?

A

Benign neoplasm made up of thick BV walls, smooth muscle and fat.

95
Q

Renal Angiomyolipomas usually present in which sex and when?

Associated with what genes?

A
  • Middle aged adults; F
  • Loss of TSC1/TSC2 tumor supressor genes
96
Q

Up to ____% of TSC patients will have angiomylipomas and _____% of angiomylipomas occur in TS patients.

A
  • 80%
  • 25-50%
97
Q

What is the clinical significance of Angiomyolipomas as far as significant complications which may arise?

A

Spontaneously rupture w/ retroperitoneal and/or intra-abdominal hemorrhage, initially presentation may be shock

98
Q

What is a renal oncocytoma?

A
  • Benign epithelial cell neoplasm made up of of oncocytes (large, eosinophilic cells filled w mT) with small, round, benign‐looking nuclei that have large nucleoli
99
Q

Renal Oncocytomas

  • Typically present when?
  • Inherited or acquired?
  • Does it metastasize or invade?
A
  • Adulhood
  • Sporadic (acquired) => unilateral
    • if familial: multicentric and bilateral.
  • RARELY, making it hard to classify.
100
Q

Renal Oncocytomas arise from what cells and what do they look like grossly?

A
    • Type A intercalated cells of CD
  • - Tan or mahogany brown, usually well encapsulated w/ a central stellate scar; can get quite large (10-15 cm)
101
Q

Renal oncocytoma can closely simulate what neoplasm?

A

Renal cell carcinoma (chromophobe type)

102
Q

On EM, Renal Oncocytomas have eosinophilic cells packed with what?

A

elongated mT

103
Q

If renal oncocytoma metasizes, what do we classify it as?

A
  • Renal cell carcinoma with oncocytic differentiation
104
Q

Whos is most often affected by renal cell carcinoma (adenocarcinoma) and when does it arise?

A
  • Males; affects B=W equally
  • 60s-80s
105
Q

Renal cell adenocarcinoma arises from what cells?

A
  • Tubular epithelial cells in kidney
106
Q

What is the major risk factor and other risk factors for RCC?

A
  • Major = smoking
  • Obesity (particularly woman)
  • HTN
  • Estrogen therapy
  • Asbestos, petroleum prods., and heavy metals
  • Tuberous Sclerosis
107
Q

Is renal cell carcinoma inherited or acquired (sporadic)?

A
  • Sporadic
    • ~4% are hereditary (AD): and occurs in younger patients
108
Q

The VHL gene is implicated in what types of renal cell carcinoma?

A
  • Familal and sporadic clear cell carcinomas
109
Q

Nearly all patients w/ Von Hippel-Lindau syndrome, develop what type of renal neoplasm?

A

Bilateral renal cell carcinoma:

    1. Hereditary clear cell carcinoma
    1. Hereditary papillary carcinoma
110
Q

What part of the kidney does renal cell carcinoma affect?

A

Any portion, but most commonly the poles.

111
Q

What are the classifications of renal cell carcinoma?

A
  1. Clear cell carcinoma
  2. Papillary carcinoma
  3. Chromophobe renal carcinoma
  4. Xp11 translocation carcinoma
  5. Collecting duct (Bellini duct) carcinoma
  6. Medullary Carcinoma
112
Q

What is the most common type of Renal Cell Carcinoma?

Describe its histological characteristics.

A
  • Clear cell carcinoma (70-80%)
  • Non-papillary cells w/ clear cytoplasm (some granular) made up of glycogen and lipids
113
Q

Clear cell type of renal cell carcinoma: Inherited or sporadic?

Majority contain which mutation and on what chromosome?

A
  • 95% are sporadic
  • Both sporadic and familial have a deletions/translocations of short arm on Chr 3 (where the VHL tumor suppressor gene is), causing loss/inactivated/mutated or hypermethylated.
114
Q

The loss of VHL in RCC causes the inappropriate expression of what genes?

A

Growth factors

    • HIF-1 induced genes
    • VEGF
    • IGF-1 (stimulates growth)
    • PDGF
115
Q

10-15% of Renal cell carcinomas are papillary carcinomas.

What genes are associated with the sporadic and heriditary types?

A
  • Sporadic: Trisomies 7, 16 17 and loss of Y Chr in males, causing a mutated, activated MET
  • Hereditary: Trisomy 7, causing a mutated, activated MET proto-oncogene.
116
Q

Chromaphobe Renal Cell Carcinoma (5% of renal cancers) arise from where and are composed of what kind of cells?

i.e., describe their distinct morphology

A
  • Arise from Type B intercalated cells of renal cortex CD (thus, difficult to distinguish from oncocytoma)
  • Pale eosinophilic cells, with a halo around nucleus, arranged in solid sheets that are largely concentrated around BV.
117
Q

What is the prognosis of renal chromophobe carcinoma?

118
Q

Cytogenetic examination of which renal carcinoma shows

  • mutliple chromosome losses & extreme hypodiploidy?
A

Chromophobe Carcinoma

119
Q

Collecting duct (Bellini duct) RCC is a rare cancer and is located where?

Prognosis?

A

Medulla of the CD

Poor

120
Q

RCC medullary carcinoma is a rare tumor most often seen in whom?

A

Sickle cell traits

121
Q
  • _______ changes in any type of renal cell carcinoma = worse prognosis
A

Sarcamatoid

122
Q

RCC

Best prognosis:

Average prognosis:

Worst:

A
  • Best: chromaphobe
  • Average: Papillary and renal cell
  • Worse: CD, medullary, sarcamatoid
123
Q

What is the classic triad of sx’s for Renal Cell Carcinoma?

Which is the most reliable clue?

A
  1. Costovertebral pain
  2. Palpable flank mass
  3. Hematuria = most reliable clue

However, all 3 will only show in 10% of pts.

124
Q

What are some of the most striking characterisitcs as far as growth and invasion go for RCC?

A
  • Tend to become large and have widespread metastases before local signs/sx’s. Then, pt will have generalized non-specific findings.
  • Tendency to invade the renal vein and can grow upwards to IVC, sometimes all the way to right side of heart
125
Q

Why is RCC considered one of the great mimics in medicine?

A
  • Tends to produce many of systemic sx’s not related to kidney
  • Including; abnormal hormone prod related to paraneoplastic manifestations, may cause: polycythemia, hypercalcemia, HTN, hepatic dysf., feminization or masculinization, Cushing’s, eosinophilia, leukemoid rxns, and amyloidosis
126
Q

What is the most common mode of spread from Renal Cell Carcinoma and where are the most common sites?

A
  • Hematogenous
  • Lungs and bone => regiona LN, liver and brain
127
Q

What is another name for the most common type of renal cell carcinoma?

A

Hypernephroma (Renal Cell Carcinoma- Clear cell)

128
Q

Why is the cytoplasm clear in Renal Cell Carcinoma - clear cell?

A

Accumulation of glycogen and lipids in rounded or polygonal shaped cells.

129
Q

Papillary type of RCC arise from where in the kidney and commonly grows how, unilateral or bilateral?

What are the major morphological characteristics and major cell types found?

A
  • Arise from DCT
  • Multifocal and BILATERAL
  • Tumors are hemorrhagic and cystic
  • Contain interstitial FOAM cells and may also have psammoma bodies
130
Q

What morphological change arises infrequently in all types of RCC and implies poor prognosis?

What cells is this cancer derived from?

A

Sarcomatoid RCC

Spindle cells that simulate a mesenchymal neoplasm

131
Q

Clear cell Renal Carcinomas are more likely to arise from __________.

Describe the lesions

A
  • Proximal tubular epithelial cells
  • Solitary, unilateral lesions
  • Bright yellow-grey-white masses are that sharply defined.
132
Q

Cancers in the renal pelvis are ______.

A

Urothelial (transitional cell) carcinomas

133
Q

Why do urothelial (transitional cell) carcinomas become clinically apparent in a short amount of time?

A

-Occur in the renal pelvis and when they fragment, produce hematuria.

134
Q

How big are urothelial tumors what do they cause?

A

Usually, small. However, they can block urinary flow and cause palpable hydronephrosis and flank pain.

135
Q

In 50% of urothelial carcinomas of the renal pelvis, there exists a concomitant tumor where?

A
  • Bladder​
  • There can be multiple that involve tthe pelvis, ureter and bladder
136
Q

What is the prognosis of Urothelial Carcinoma of the Renal Pelvis?

Are they infiltrative?

A
  • Despit being small, urothelial cell carcinomas of the renal pelvis infiltrate the pelvis wall and clayces.
  • Poor prognosis.
137
Q

If urothelial cell carcinoma of the renal pelvis is infiltrative, what is the 5-year survival rate?

What about if it is no?

A

Infilate: 10%

No: 50-100%

138
Q

Wilms tumor (aka _______) is a childhood tumor that is most common in _______, peaking at ages _______.

A
  • Nephroblastoma
  • Asians > whites > blacks
  • 2-5 YO
139
Q

Name the top 4 common childhood malignancies and the most common childhood malignancy of the kidney.

A

1. Acute leukemia

2. Neuroblastoma

3. Retinoblastoma

4. Wilms tumor*

140
Q

How does Wilms tumor clinically present?

A
  • Large abdominal mass
  • Pain, microscopic hematuria, HTN
141
Q

Is Wilms tumor most often unilateral or bilateral?

A

Mostly unilateral, but in 5-10% of cases it is bilateral.

142
Q

What is Wilms tumor caused by?

A
  • 90% of children with Wilms tumor are previously healthy and no congenital abnormalities/ genetic problems
  • 10% however, have familial syndromes d/t mutations on Chr 11, WT1 or WT1
143
Q

What is WAGR?

A
  • Wilms-Aniridia-Genital-Retardation is a familial syndrome that is due to a mutation of Chr 11 and WT1.
    • 40% of patients will have Wilms tumor
    • No iris (aniridia),
    • Retardation
    • GU malformation.
      • Boys: undescended testes
      • Girls: Streak gonads or uterine malformation
144
Q

What is Denys Drash Syndrome?

A
  • Denys-Drash syndrome is a familial syndrome that is due to a mutation of Chr 11 and WT1.
  • -90% of patients have Wilms tumors and gonadal/renal tumors.
145
Q

What is Beckwith Wiedmann syndrome?

A

Mutation of WT2 that causes wilms, hemihypertrophy and macroglossia

146
Q

100% of bilateral Wilms tumors and 25-40% of unilateral Wilms tumors are associated with _______. Thus, if they’re ID’d, what must we suspect?

A
  • Nephrogenic rests (precursor lesions)
  • Bilateral tumors are a possibility.
147
Q

Describe the components of a majority of Wilms tumor?

A

Triphasic Blastoma with no signifiant aplasia consisting of

  • - Metanephric blastoma cells- densely packed
  • - Epithelial cells- immature tubule
  • - Stromal cells- spindle shaped

while are germinally derived from metanephric blastoma cells.

148
Q

Why is diagnosing Wilms tumor hard?

A

Bc there majority of Wilms tumors have all 3 cell types

149
Q

Describe aneuplastic Wilms tumors

What confers bad prognosis?

A
  • Focal or diffuse tumors with poorly differentied cells associated with mutation in p53 and resistant to chemo.
  • Diffuse
150
Q

Describe the gross appearance of Wilms tumor and where it grows on the kidney?

A

Tan-gray w_ell-circumsbribed_ tumor that is large and grows in lower pole.

151
Q

What is the prognosis of Wilms tumor?

Whatr is the most IMPORTANT element that determines prognosis

A
  • Depends on histology and stage of disease.
    • However, 90% survive 4 years after dx.
  • Whether or not diffuse anaplasia is present.
152
Q

Are metastitic diseases that progress to kidney common?

How do they present

A

No. If they do, its often a terminal event of the cancer.

Multifocal and bilateral.

Lung, myeloma, breast, GI => kidney

CPR Exam 2 (29 decks)

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