20.4 Congenital Disorders of the Kidney Flashcards
(152 cards)
1
Q
Bilateral agenesis of kidneys is found in _________.
A
Stillborn infants.
2
Q
What population of people is more likely to get vascular diseases that affect the kidney?
A
1. DM
2. HTN
3
Q
Disorders of the kidney that are inherited/acquired will affect BOTH kidneys.
A
Inherited (AD/AR)
4
Q
Disorders of the kidney that are inherited/acquired will affect one kidney.
A
Acquired
5
Q
What occurs to the other kidney as a result of unilateral agenesis?
A
Compensatory hypertrophy, causing an increase risk of HTN.
6
Q
A infant that livess will have _______ agenesis. Why?
A
Unilateral, bilateral agenesis is not compatible with life
7
Q
Unilateral agenesis can develop into ____________.
A
Progressive glomerulosclerosis => CKD
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
9
Q
Ectopic kidneys generally move where?
A
Somewhere along the path of the ureter: from kidney to bladder.
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
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.
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.
13
Q
How are renal cysts found and do they stay the same size?
A
Incidental; no, they can get large.
14
Q
If we have a test question where BOTH kidneys have cysts, what is our differential diagnosis?
A
- Adult polycystic kidney disease (AD)
- Infant/childhood polycystic kidney disease (AR)
- Familial juvenile nephronophthisis (AR)
- Adult-onset nephronophthisis (AD)
15
Q
If we have a test question where ONE kidney has cysts, what is our differential diagnosis?
A
- Medullary sponge disease
- Simple cysts
- Acquired renal cystic disease
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.`
17
Q
adult polycystic kidney disease (APKD): inherited or acquired?
A
Inherited: AD
18
Q
What is adult polycystic kidney disease (APKD):
A
Inheritance (AD) of multi-cystic, bilateral kidneys that enlarge => destroys parenchyma => renal failure.
19
Q
In ADPKD, what is the size of the kidneys?
A
15-20x larger (4Kg) than normal
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.
21
Q
Who is more likely to get ADPKD?
A
White adults
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
23
Q
There is an overall increased incidence of ____ and ____ in pts with ADPKD?
A
Nephrolithiasis
UTI
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.
25
**PKD1** codes for \_\_\_\_\_\_\_\_, which has a role in \_\_\_\_\_\_\_\_.
**polycystin 1,** a integral membrane glycoprotein.
**Cell-cell interaction** or **cell-matrix interaction**
26
**PKD2** codes for \_\_\_\_\_\_\_\_.
ADPKD mutation of PKD2 causes what?\>
polycystin 2, a Ca2+ ion channel.
fucks w regulation of intracellular Ca2+
27
\_\_\_\_\_ mutations have a **45%** chance of developing **ESRD** by **70**.
**PDK2**
28
What is the **typical clinical course of ADPKD** and how does it typically present?
- 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
29
There is a **more _aggressive_ (**earlier onset, more severe) **clinical course** in **which patients w/ ADPKD?**
* **Blacks** (esp those with sickle cell trait)
* **Men**
* Those with **concommitant HTN**
30
What are the clinically significant **extra-renal manifestations** of **ADPKD**?
- **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%)
31
How do most people with **ADPKD** die?
* **Coronary** or **HTN** disease
32
In summary, what are the pathological features of **ADPKD**?
* 1. **Large, multicystic bilateral kidneys**
* 2. **Hepatic cysts**
* 3. **Berry aneuryisms** cause subarachnoid hemorrhage in 4-10%
* 4. **Mitral valve prolopse**
* 5. **Diverticular disease.**
33
Most cases of **Autosomal recessive polycystic kidney diases (ARPKD**) are due to mutation in which gene and on what chromosome?
* **PKHD 1,** but so many mutations occur which is why there are many clinical presentations.
* **Chromosome 6**
34
**ARPKD** occurs in \_\_\_\_\_.
**Children**
35
How are the **kidneys/cysts** in **ARPKD** different from ADPKD?
**Slightly enlarged kidneys** and cysts are **small** and **radially oritented,** from the **dilated collecting ducts.**
36
Where are the cysts seen in **ARPKD** derived from?
**Dilated collecting ducts**
37
How is the surface of the kidney in **ARPKD** different from ADPKD?
**Enlarged and smooth,**
as opposed to enlarged and cystic in ADPKD.
38
What are the 4 clinical subtypes of **ARPKD**?
Which are the most common?
* **1. Perinatal (MC)**
* **2. Neonatal (2nd most common)**
* **3. Infantile**
* **4. Juvenile**
39
Describe the clinical course of ARPKD.
## Footnote
- 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
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.
40
Describe the **perinatal** and **neonatal** forms of ARPKD.
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
41
Describe the **infantile** and **juvenile** forms of **ARPKD**.
\_\_\_\_ % CD are cystic
Liver abnormalities: \_\_\_\_\_\_\_\_\_\_\_
Death: \_\_\_\_\_\_\_
* **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.
42
If a patient with ARPKD presents with **portal HTN and esophageal varices**, what subtype do they have?
**Juvenile**
43
What are the 3 major subtypes of **medullary cystic diseases (cysts of the medulla)**?
**1. Medullary sponge kidney**
**2. Nephronophthisis**
44
What is **medullary sponge kidney?**
Who gets them?
* - **Adults**
* **- Incidental radiographic finding** of multiple cysts located at the corticomedullary junction (mostly in medulla)
45
Is **medullary sponge kidney** inherited or acquired, thus, affect ______ kidney
* **Acquired**
* **One**
46
How is the size of the kidney affected in **medullary sponge kidney** and what is the outcome?
* **NL size**
* **Benign outcome; no renal problems**
47
What are **Simple Cysts** of the **kidney**?
Significance?
* **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.**
48
Are **simple cysts of the kidney** acquired/inherited, thus occuring where both or one kidney?
* **Acquired**
* **One kidney**
49
What are the **complications** of single cysts of the kidney and what is the **outcome**?
* **MAYBE microscopic hematuria**
* **No clinical significance**
50
What type of cysts are associated with pts w/ **ESRD** who have undergone **prolonged dialysis** and sx's?
**Acquired renal cystic disease**
51
Describe the cysts/kidneys seen in **acquired renal cystic disease.**
**Many** **small**, **cysts with clear fluid** in the **_cortex or medulla_** of **ONE kidney.**
52
Patients with **acquired renal cystic disease** will show what symptoms?
Acquired renal cystic disease is associated with \_\_\_\_\_\_\_\_.
Outcome?
* **Hemorrhage**, **erythrocytosis**, **neoplasia**
* Development of **renal cell carcinoma**
* Depends on **dialysis**
53
**Acquired renal cystic diseases** has many small fluid filled cysts that often contain what?
**Calcium oxalate crystals** (_dialysis_ pts)
In _general population,_ **calcium phosphate stones** are most common.
54
How big are the kidneys in **acquired renal cystic disease?**
**NL sized**
55
**Muliticystic renal dysplasia** is often unilateral/bilateral.
**Unilateral**
Rarely, it can be familial and be bilateral.
56
Is **congenital** always inherited?
No, it can be **sporadic**.
57
How is **Multicystic Renal Dysplasia** acquired and how is it discovered?
**Sporadic** (non-familial **congenital**), discovered as a **abdominal mass in the perinatal period** (around birth).
58
Describe the cysts in **multicystic renal dysplasia.**
**Multiple**, **different-sized** cysts
59
What is the characteristic histological finding of **Multicystic Renal Dysplasia?**
* Islands of **undifferentiated mesenchyme (CT)** that is often **cartilage**
* **Immature collecting ducts**
60
Most cases of **Multicystic Renal Dysplasia** are associated what anomalies?
1. **Agenesis of ureter (no ureter)**
2. **Uteropelvic obstruction**
3. Other **lower GU abnormalities**
61
What is the typical outcome of **CHILDREN** with **multicystic renal dyplasia?**
**Have a NL life expectancy :)**
62
If we have an **abdominal mass**, what is in our DDx?
* **1. Neuroblastoma**
* **2. Wilms tumor**
* **3. Unilateral multicystic renal dysplasia**
63
What is the significance of **unilateral Multicystic Renal Dysplasia**, especially in a child and its prognosis?
**Bilateral**?
- **Unilateral** = abd. mass in child may mimic a neoplasm. Surgically removed via nephrectomy = excellent prognosis
- **Bilateral** will eventually progress to renal failure
64
* **Obstructive urinary lesions** (OUL) can lead to
* **Infection** and **form stones**
* Almost always leads to _**permanent renal atrophy** (hydronephrosis or obstructive uropathy)_
65
What is **hydronephrosis**?
**_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
**Obstruction** initially causes?
Eventually progresses to?
* **Problem concentrating urine**
* **Decrease in GFR**
67
Which imaging technique is useful for diagnosis of **obstructive uropathy?**
**Ultrasound**
68
* **Unilateral complete or partial hydronephrosis** signs.
* **can remain silent for long times** as the other kidney compensates
69
What are the **early** vs. **late** mophological features of **Hydronephrosis**?
- **Early** = dilation of the pelvis and calyces, may be significant interstitial inflammation
- **Later** = atrophy of cortical tubules+ diffuse interstitial fibrosis
70
In advanced cases of **Hydronephrosis** what morphological changes are seen in the kidney?
- **Kidney** = turn into **thin-walled** & **cysts form**
- Striking **parenchymal** **atrophy**
- **Total obliteration of pyramid**s + **cortex thins**
71
Is **Nephrolithiasis** (aka **kidney stones**) typicall bi- or unilateral?
Sex most often affected and at what age?
* **Unilateral**
* **Males**
* **20-30 YO**
72
Is there a familial or hereditary predisposition to developing **nephrolithiasis**?
**Yes**
73
What are **4 predisposing** that influence the development of calculi (stones) in the urinary tract?
1. **Increased concentration of stone constituents**
2. **Changes in urinary pH**
3. **Decreased urine volume**
4. **Presence of bacteria**
74
What is the most important determinant of developing **kidney stones?**
Increased urinary concentration of the particles that make up a stone, causing it not to solubulze in the urine.
75
**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?
* When they NTR the **ureter**
* Cause:
* **Renal colic (intense pain)**
* **Ureter mucosa (calyceal)** will **bleed** and **ulcerate**
* **Obstruct urinary flow.**
76
Are **large** or **small** stones more dangerous?
**Smaller, jagged:** they can NTR the ureter and cause smooth muscle in ureter to spasm =\> (renal colic)
77
What are the 4 main types of **renal calculi?**
1. **Calcium oxalate and phosphate** (70%)
2. **Magnesium-ammonia-phosphate**: **struvite** (15-20%)
3. **Uric acid stones**
4. **Cystine**
78
**Struvite stone**s, made of **magnesium ammonium phosphate stones** are formed largely due to?
Size of stone and form what?
- 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
What is important to take into consideration about the development of **Uric Acid stones?**
- 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
What is the favored sites within the urinary tract for the **formation of stones**?
- **Renal calyces** and **pelvis**
- bladder
81
**Heritidary/familial cancers** are most commonly going to be?
**1. Bilateral**
**2. Multi-centric (have multiple lesions)**
82
What is the most common **malignant tumor** of the kidney in both **adults** and in **children**?
- **Adults** = **Renal Cell Carcinoma** (1st) and **Urothelial Carcinomas of the Calyces and Pelvis** (2nd)
- **Children** = **Wilms Tumor**
83
What is the most common **benign neoplasm** of the **kidney**?
Arise from what cell?
- **Renal papillary adenomas**
- **Renal tubular epithelium**
84
What are **benign neoplasms** of the kidney?
* 1. Renal papillary adenoma
* 2. Angiomyolipoma
* 3. Oncocytoma
* 4. Renal fibroma or hamartoma
* 5. Juxtaglomerular cell tumors (produce renin)
* 6. Other stromal or mesenchymal tumors
85
What can we generalize about the **vast majority** of **benign renal neoplasms?**
* **Rarely cause clinical problems**
* Usually **discovered incidentally**
* Are **small** (but sometimes oncocytomas or angiomyolipomas can be 10 cm or more)
86
How do we assess whether a neoplasm is **[_renal papillary adenoma_]** or **_[renal cell carcinoma]_**?
* **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
Describe the morphology (i.e., size, shape, location, and color) of **Renal Papillary Adenomas?**
- **Small**, within **cortex**
- **Yellow-gray,** **well-circumscribed nodules** (can be **many**)
88
What is the histopathology of **renal papillary adenoma?**
* **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
**Renal papillary adenomas** share what similar cytogenetic features that are also present in **low-grade RCC?**
**Trisomy 7 and 17**
90
What are a **common incidental autopsy** findings (7-22% of cases) and 40% in poeple over 70?
**Renal papillary adenoma**
91
Which benign neoplasm of the kidney is highly associated with **Tuberous Sclerosis?**
**Renal angiomyolipomas**
92
**Tuberous Sclerosis** has what type of inheritance?
Manifests as a complex of what type of disorders?
* **Autosomal Dominant**
* Tumors or lesions of: **brain**, **skin**, **kidney**, **lungs**, and **eyes**
93
**Renal angiomyolipomas** are also called what?
* **Renal fibroma**
* **Harmatoma**
94
What is a **renal angiomyolipoma?**
**Benign neoplasm** made up of **thick BV walls,** **smooth muscle** and **fat**.
95
**Renal Angiomyolipomas** usually present in which sex and when?
Associated with what genes?
* **Middle aged** adults; **F**
* Loss of **TSC1/TSC2** tumor supressor genes
96
Up to \_\_\_\_% of TSC patients will have **angiomylipomas** and \_\_\_\_\_% of angiomylipomas occur in TS patients.
* **80%**
* **25-50%**
97
What is the clinical significance of **Angiomyolipomas** as far as significant complications which may arise?
**Spontaneously rupture** w/ **retroperitoneal** and/or **intra-abdominal hemorrhage**, initially presentation may be **shock**
98
What is a **renal oncocytoma?**
* **Benign epithelial** **cell** neoplasm made up of of oncocytes (**large, eosinophilic cells filled w mT)** with small, round, benign‐looking **nuclei** that have *_l**arge nucleoli**_*
99
**_Renal Oncocytomas_**
* Typically present when?
* Inherited or acquired?
* Does it metastasize or invade?
* **Adulhood**
* **Sporadic** (acquired) =\> unilateral
* if familial: multicentric and bilateral.
* **RARELY**, making it hard to classify.
100
**Renal Oncocytomas** arise from what cells and what do they look like grossly?
* - **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
**Renal oncocytoma** can closely simulate what neoplasm?
**Renal cell carcinoma (chromophobe type)**
102
On EM, **Renal Oncocytomas** have **eosinophilic cells** packed with what?
**elongated mT**
103
If **renal oncocytoma** metasizes, what do we classify it as?
* **Renal cell carcinoma** with **oncocytic differentiation**
104
Whos is most often affected by **renal cell carcinoma (adenocarcinoma)** and when does it arise?
* **Males**; affects **B=W equally**
* **60s-80s**
105
**Renal cell adenocarcinoma** arises from what cells?
* **Tubular _epithelial cells_ in kidney**
106
What is the major risk factor and other risk factors for **RCC**?
* **Major = smoking**
* Obesity (particularly woman)
* HTN
* Estrogen therapy
* Asbestos, petroleum prods., and heavy metals
* Tuberous Sclerosis
107
Is **renal cell carcinoma** inherited or acquired (sporadic)?
* **_Sporadic_**
* ~4% are hereditary (AD): and occurs in younger patients
108
The **VHL gene** is implicated in what types of **renal cell carcinoma**?
* **Familal and sporadic clear cell carcinomas**
109
Nearly all patients w/ **Von Hippel-Lindau syndrome**, develop what type of renal neoplasm?
**_Bilateral renal cell carcinoma:_**
* 1. Hereditary _clear cell carcinoma_
* 2. Hereditary _papillary carcinoma_
110
What part of the kidney does **renal cell carcinoma** affect?
Any portion, but most commonly the **poles**.
111
What are the classifications of **renal cell carcinoma?**
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
What is the most common type of **Renal Cell Carcinoma?**
Describe its histological characteristics.
- **Clear cell carcinoma (70-80%)**
- **Non-papillary cells** w/ **clear cytoplasm** (some granular) made up of glycogen and lipids
113
**Clear cell type of renal cell carcinoma:** Inherited or sporadic?
Majority contain which mutation and on what chromosome?
* 95% are **sporadic**
* Both sporadic and familial have a deletions/translocations of s**hort arm on Chr 3** (where the VHL tumor suppressor gene is), causing loss/inactivated/mutated or hypermethylated.
114
The loss of **VHL** in **RCC** causes the inappropriate expression of what genes?
**Growth factors**
* - HIF-1 induced genes
* - VEGF
* - IGF-1 (stimulates growth)
* - PDGF
115
10-15% of Renal cell carcinomas are **papillary carcinomas.**
What genes are associated with the sporadic and heriditary types?
* 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
**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
- 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 sheet**s that are largely concentrated around **BV**.
117
What is the prognosis of **renal chromophobe carcinoma?**
**Excellent**
118
Cytogenetic examination of which renal carcinoma shows
* **mutliple chromosome losses** & extreme **hypodiploidy**?
**Chromophobe Carcinoma**
119
**Collecting duct (Bellini duct) RCC** is a **rare** cancer and is located where?
Prognosis?
**Medulla of the CD**
**Poor**
120
**RCC medullary carcinoma** is a rare tumor most often seen in whom?
**Sickle cell traits**
121
* ***\_\_\_\_\_\_\_*** changes in any type of renal cell carcinoma **= worse prognosis**
**_Sarcamatoid_**
122
**_RCC_**
Best prognosis:
Average prognosis:
Worst:
* **Best**: chromaphobe
* **Average**: Papillary and renal cell
* **Worse**: CD, medullary, sarcamatoid
123
What is the classic triad of sx's for **Renal Cell Carcinoma?**
Which is the most reliable clue?
1. **Costovertebral pain**
2. **Palpable flank mass**
3. **Hematuria** = most reliable clue
However, all 3 will only show in **10%** of pts.
124
What are some of the most striking characterisitcs as far as growth and invasion go for **RCC**?
- 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
Why is **RCC** considered one of the **great mimics in medicine?**
- 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
What is the most common mode of spread from **Renal Cell Carcinoma** and where are the most common sites?
* **Hematogenous**
* **Lungs** and **bone** =\> regiona LN, liver and brain
127
What is another name for the most common type of renal cell carcinoma?
**Hypernephroma** (Renal Cell Carcinoma- Clear cell)
128
Why is the **cytoplasm** **clear** in Renal Cell Carcinoma - clear cell?
Accumulation of **glycogen** and **lipids** in rounded or polygonal shaped cells.
129
**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?
- Arise from **DCT**
- **Multifocal** and **BILATERAL**
- Tumors are **hemorrhagic** and **cystic**
- Contain interstitial **FOAM cells** and may also have **psammoma bodies**
130
What morphological change arises infrequently in all types of **RCC** and implies **poor prognosis?**
What cells is this cancer derived from?
**Sarcomatoid RCC**
**Spindle cells** that **simulate** a **_mesenchymal neoplasm_**
131
**Clear cell Renal Carcinomas** are more likely to arise from \_\_\_\_\_\_\_\_\_\_.
Describe the lesions
* **Proximal tubular epithelial cells**
* **Solitary**, **unilateral** **lesions**
* **Bright yellow-grey-white masses** are that sharply defined.
132
**Cancers** in the **renal pelvis** are \_\_\_\_\_\_.
**Urothelial (transitional cell) carcinomas**
133
Why do **urothelial (transitional cell) carcinomas** become clinically apparent in a short amount of time?
-Occur in the renal pelvis and when they fragment, produce **hematuria**.
134
How big are **urothelial tumors** what do they cause?
Usually, **small**. However, they can **block urinary flow** and cause p**alpable hydronephrosis** and **flank pain.**
135
In **50%** of **urothelial carcinomas** of the renal pelvis, there exists a concomitant tumor where?
* **Bladder******
* There can be multiple that involve tthe pelvis, ureter and bladder
136
What is the prognosis of Urothelial Carcinoma of the Renal Pelvis?
Are they infiltrative?
* Despit being small, urothelial cell carcinomas of the renal pelvis **infiltrate the pelvis wall** and **clayces**.
* **Poor prognosis.**
137
If **urothelial cell carcinoma** of the **renal pelvis** is infiltrative, what is the **5-year survival rate?**
What about if it is no?
Infilate: 10%
No: 50-100%
138
**Wilms tumor** (aka \_\_\_\_\_\_\_) is a childhood tumor that is most common in \_\_\_\_\_\_\_, peaking at ages \_\_\_\_\_\_\_.
* **Nephroblastoma**
* **Asians** \> whites \> blacks
* **2-5** YO
139
Name the **top 4 common childhood malignancies** and the **most common childhood malignancy of the kidney.**
**1. Acute leukemia**
**2. Neuroblastoma**
**3. Retinoblastoma**
**4. Wilms tumor\***
140
How does **Wilms tumor** clinically present?
* Large abdominal **mass**
* **Pain**, **microscopic hematuria,** **HTN**
141
Is **Wilms tumor** most often unilateral or bilateral?
**Mostly unilateral**, but in 5-10% of cases it is bilateral.
142
What is **Wilms tumor** caused by?
* **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
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What is **WAGR**?
* **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
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What is **Denys Drash Syndrome?**
* **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.**
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What is **Beckwith Wiedmann syndrome?**
Mutation of **WT2** that causes **wilms**, **hemihypertrophy** and **macroglossia**
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**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?
* **Nephrogenic rests (precursor lesions)**
* **Bilateral tumors** are a possibility.
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Describe the components of a majority of **Wilms tumor?**
**Triphasic Blastoma** with **no signifiant aplasia** consisting of
* **- Metanephric blastoma cells- d**ensely packed
* **- Epithelial cells- i**mmature tubule
* **- Stromal cells-** spindle shaped
while ar**e germinally derived** from metanephric blastoma cells.
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Why is diagnosing Wilms tumor hard?
Bc there majority of Wilms tumors have all 3 cell types
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Describe **aneuplastic Wilms** tumors
What confers bad prognosis?
* **Focal** or **diffuse** tumors with poorly differentied cells associated with **mutation in p53** and resistant to chemo.
* Diffuse
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Describe the **gross** appearance of **Wilms tumor** and where it grows on the kidney?
**Tan-gray** w_ell-circumsbribed_ tumor that is **large** and grows in **lower pole.**
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What is the **prognosis** of **Wilms** tumor?
Whatr is the most IMPORTANT element that determines prognosis
* Depends on histology and stage of disease.
* However, 90% survive 4 years after dx.
* Whether or not diffuse anaplasia is present.
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Are metastitic diseases that progress to kidney common?
How do they present
**No**. If they do, its often a **terminal event** of the cancer.
**Multifocal** and **bilateral**.
**Lung, myeloma, breast, GI** =\> kidney
