Developmental and Cystic Diseases Flashcards
(68 cards)
1
Q
DX?
- retinal hemangioblastomas
- cerebellar hemangioblastomas
- pheochromocytomas
- renal cell carcinoma
A
Von Hippel Lindau disease
2
Q
How does Autosomal dominant polycystic kidney disease present?
A
- chronic flank pain
- intermittent hematuria
- HTN
- chronic renal failure in the fifth decade of life
3
Q
Who gets Acquired renal cystic disease (ARCD)?
A
- pts with ESRD
- esp if on dialysis
- esp if male
4
Q
DX?
- kidneys are enlarged bilaterally, but still reniform
- Radial cysts are less than 3 mm in diameter extend from the papillary tips to the surface of the cortex
- Microscopically, cysts are dilated collecting tubules lined by cuboidal epithelium
A
Autosomal recessive polycystic kidney disease
4
Q
What does a Congenital Mesoblastic Nephroma consist of?
A
- solitary firm round infiltrating fibrous mass
- composed of bland spindle cells
5
Q
What is Beckwith-Weidemann syndrome (BWS)?
A
- gigantism
- macroglossia
- exomphalmos
- Wilms tumors
6
Q
This is the under development of a kidney with contralateral compensatory hypertrophy.
A
Renal Hypoplasia
6
Q
What do mutations in TSC1 on 9q34 and TSC2 on 16p13 cause?
A
Tuberous sclerosis
7
Q
What is horseshoe kidney?
A
the anlage of the kidneys is fused (90% of the time at the lower pole)
7
Q
How do pts with Acquired renal cystic disease (ARCD)present clinically?
A
- gross hematuria
- flank pain
- renal colic
- a palpable renal mass
7
Q
DX?
- facial nevi
- cardiac rhabdomyomas
- epilepsy
- angiofibromas
- mental retardation
- multiple renal angiomyolipomas
A
Tuberous sclerosis
7
Q
What is the most common cause of an abdominal mass in the newborn period?
A
Multicystic dysplasia of the kidney (MCDK)
7
Q
What does a deletion of 11p13 including PAX6 cause?
A
Beckwith-Weidemann syndrome (BWS)
9
Q
Renal Ectopia (Malposition) may result in _____ obstruction and ______-shaped kidneys.
A
ureteral; discoid
10
Q
DX?
- multicystic dysplastic
- abnormally shaped- resembles a bunch of grapes
- Numerous and irregularly sized, smooth walled cysts range from less than 1 mm to several centimeters in diameter
- cysts contain a clear or yellow fluid
- Primitive epithelial ducts and nests of metaplastic cartilage
A
Multicystic dysplasia of the kidney (MCDK)
11
Q
What does a “ring sign” on prenatal sonogram indicate?
A
Congenital Mesoblastic Nephroma
12
Q
Pts with Autosomal dominant polycystic kidney disease also are usually found to have?
A
- hepatic cysts
- mitral valve prolapse
- diverticulosis
- cerebral aneurysms
- pancreatic cysts
13
Q
What is the most common malignant tumor of childhood?
A
Nephroblastoma (Wilms tumor)
14
Q
This syndrome includes:
- gigantism
- macroglossia
- exomphalmos
- high propensity for Wilms tumors
A
Beckwith-Weidemann syndrome (BWS)
15
Q
What is Renal Ectopia (Malposition)?
A
failure of the kidney to rise out of the pelvis or to rotate medially
15
Q
What causes Von Hippel Lindau disease?
A
a mutation in VHL gene on 3p25
16
Q
What is the most common cause of ESRD in the first 2 decades of life?
A
Nephronophthisis-medullary cystic kidney disease complex (NMCD)
17
Q
______ or ______ atresia is always present in multicystic dysplasia of the kidney (MCDK).
A
Ureteral; ureteropelvic
17
Q
What causes WAGR (Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation)?
A
deletion of 11p13 including PAX6 and WT1
18
When does a Nephroblastoma (Wilms tumor) present?
age 4-6
19
What does a Nephroblastoma (Wilms tumor) consist of?
* solitary budging tumor
* triphasic histology:
* stromal (fibroblastic)
* blastemal (small round blue cells)
* epithelial (tubules) components
20
What other findings are usually found in pts with Autosomal recessive polycystic kidney disease?
* liver is grossly enlarged, with bile duct proliferation and periportal fibrosis called congenital hepatic fibrosis (CHF)
* HTN
* growth retardation
20
What causes Tuberous sclerosis?
* mutations in TSC1 on 9q34
* mutaions in TSC2 on 16p13
21
How does Multicystic dysplasia of the kidney (MCDK) occur?
from an abnormal induction of the metanephric blastema by the ureteral bud
22
What is Renal Hypoplasia?
the under development of a kidney with contralateral compensatory hypertrophy
23
What is the tx for Congenital Mesoblastic Nephroma?
surgery
25
What causes Autosomal dominant polycystic kidney disease?
* mutations in PKD1 (90%) on 16p13
* mutations in PKD2 (10%) on 4q21
26
This disease is caused from an abnormal induction of the metanephric blastema by the ureteral bud.
Multicystic dysplasia of the kidney (MCDK)
27
What is Acquired renal cystic disease (ARCD)?
* cortical cysts filled with clear fluid
* usually 0.5cm in diameter that may grow to 3cm
* later develop in the medulla.
28
What is the most common renal lesion?
simple cysts
30
What is Renal Dysplasia?
* abnormal metanephric tissue differentiation of the kidney tissue with cysts and heterotopic tissues such as cartilage
* due to pleuripotent potential of renal anlage
31
What is the prognosis for Renal Agenesis/Aplasia?
incompatible with postnatal life :(
31
How does a Nephroblastoma (Wilms tumor) look on imaging?
a solitary abdominal mass with "claw sign"
32
What does a solitary abdominal mass with "claw sign" indicate?
Nephroblastoma (Wilms tumor)
35
This is failure of the kidney to rise out of the pelvis or to rotate medially.
Renal Ectopia (Malposition)
36
Which kidney is most often affected in Renal Agenesis/Aplasia?
the left
38
How do the kidneys appear in Nephronophthisis-medullary cystic kidney disease complex (NMCD)?
* bilateral small kidneys
* cortical atrophy with a thickened, pitted, granular, capsular surface
* Spherical cysts located primarily at the corticomedullary junction
* Microscopic: cysts lined by single layers of cuboidal epithelium with a thickened basement membrane
39
What is the most common kidney tumor from age 0-6?
Congenital Mesoblastic Nephroma
40
What does due to PKHD1 on 6p21 encode?
fibrocystin
42
What happens to the kidneys in Autosomal dominant polycystic kidney disease?
* kidneys are bilaterally enlarged
* multiple cysts distributed uniformly through the medulla and cortex
* cycts containing clear to hemorrhagic fluid
* Cystic dilation of all segments of the nephron
43
Name 2 genetic syndromes that Wilms tumors are associated with.
1. Beckwith-Weidemann syndrome (BWS)
2. WAGR (Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation)
45
How does someone get Nephronophthisis-medullary cystic kidney disease complex (NMCD)?
it's auto recessive
46
These are:
* cortical cysts filled with clear fluid
* usually 0.5cm in diameter that may grow to 3cm
* later develop in the medulla.
Acquired renal cystic disease (ARCD)
46
DX?
* liver is grossly enlarged, with bile duct proliferation and periportal fibrosis called congenital hepatic fibrosis (CHF)
* HTN
* growth retardation
Autosomal recessive polycystic kidney disease
48
What does ARCD stand for?
Acquired renal cystic disease
50
Pts with horseshoe kidney are at increased risk for \_\_\_\_\_\_.
urolithiasis
51
What is the Tuberous sclerosis phenotype?
* facial nevi
* cardiac rhabdomyomas
* epilepsy
* angiofibromas
* mental retardation
* multiple renal angiomyolipomas
52
What is the Von Hippel Lindau disease phenotype?
* retinal hemangioblastomas
* cerebellar hemangioblastomas
* pheochromocytomas
* renal cell carcinoma
52
What does a mutation in VHL gene on 3p25 cause?
Von Hippel Lindau disease
53
This is abnormal metanephric tissue differentiation of the kidney tissue with cysts and heterotopic tissues (such as cartilage) due to pleuripotent potential of renal anlage.
Renal Dysplasia
54
\_\_\_\_\_ may result in ureteral obstruction and discoid shaped kidneys.
Renal Ectopia (Malposition)
56
What may develop from Acquired renal cystic disease (ARCD)?
renal cell carcinoma
57
What causes Autosomal recessive polycystic kidney disease?
mutations o PKHD1 on 6p21
59
How does the kidney appear in Multicystic dysplasia of the kidney (MCDK)?
* multicystic dysplastic
* abnormally shaped- resembles a bunch of grapes
* Numerous and irregularly sized, smooth walled cysts range from less than 1 mm to several centimeters in diameter
* contain a clear or yellow fluid
* Primitive epithelial ducts and nests of metaplastic cartilage
60
Name the 2 most common pediatric renal tumors.
1. Congenital Mesoblastic Nephroma
2. Nephroblastoma (Wilms tumor)
61
Where do cysts develop in Von Hippel Lindau disease?
* renal
* pancreatic
* hepatic
* epididymal
62
Name the disease:
* kidneys are bilaterally enlarged
* multiple variably sized renal cysts distributed uniformly through the medulla and cortex
* cysts contain clear to hemorrhagic fluid
* cystic dilation involves all segments of the nephron
Autosomal dominant polycystic kidney disease
63
This is the anlage of the kidneys is fused (90% of the time at the lower pole).
horseshoe kidney
64
What does a deletion of 11p13 including PAX6 and WT1 cause?
WAGR (Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation)
65
This kidney disease is due to failure of the metanephric diverticulum to develop or bc of its early degeneration.
Renal Agenesis/Aplasia
66
What does NMCD stand for?
Nephronophthisis-medullary cystic kidney disease complex
67
What are the kidneys like in Autosomal recessive polycystic kidney disease?
* enlarged bilaterally but still reniform
* Radial cysts are less than 3 mm in diameter
* cysts extend from the papillary tips to the surface of the cortex
* Microscopically cysts are dilated collecting tubules lined by cuboidal epithelium
68
Ureteral or ureteropelvic atresia is always present in \_\_\_\_\_.
Multicystic dysplasia of the kidney (MCDK)
