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CVPR: Renal (Exam 4) > Developmental and Cystic Diseases > Flashcards

Developmental and Cystic Diseases Flashcards

1
Q

DX?

  • retinal hemangioblastomas
  • cerebellar hemangioblastomas
  • pheochromocytomas
  • renal cell carcinoma
A

Von Hippel Lindau disease

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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
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3
Q

Who gets Acquired renal cystic disease (ARCD)?

A
  • pts with ESRD
  • esp if on dialysis
  • esp if male
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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

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4
Q

What does a Congenital Mesoblastic Nephroma consist of?

A
  • solitary firm round infiltrating fibrous mass
  • composed of bland spindle cells
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5
Q

What is Beckwith-Weidemann syndrome (BWS)?

A
  • gigantism
  • macroglossia
  • exomphalmos
  • Wilms tumors
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6
Q

This is the under development of a kidney with contralateral compensatory hypertrophy.

A

Renal Hypoplasia

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6
Q

What do mutations in TSC1 on 9q34 and TSC2 on 16p13 cause?

A

Tuberous sclerosis

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7
Q

What is horseshoe kidney?

A

the anlage of the kidneys is fused (90% of the time at the lower pole)

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7
Q

How do pts with Acquired renal cystic disease (ARCD)present clinically?

A
  • gross hematuria
  • flank pain
  • renal colic
  • a palpable renal mass
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7
Q

DX?

  • facial nevi
  • cardiac rhabdomyomas
  • epilepsy
  • angiofibromas
  • mental retardation
  • multiple renal angiomyolipomas
A

Tuberous sclerosis

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7
Q

What is the most common cause of an abdominal mass in the newborn period?

A

Multicystic dysplasia of the kidney (MCDK)

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7
Q

What does a deletion of 11p13 including PAX6 cause?

A

Beckwith-Weidemann syndrome (BWS)

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9
Q

Renal Ectopia (Malposition) may result in _____ obstruction and ______-shaped kidneys.

A

ureteral; discoid

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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)

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11
Q

What does a “ring sign” on prenatal sonogram indicate?

A

Congenital Mesoblastic Nephroma

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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
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13
Q

What is the most common malignant tumor of childhood?

A

Nephroblastoma (Wilms tumor)

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14
Q

This syndrome includes:

  • gigantism
  • macroglossia
  • exomphalmos
  • high propensity for Wilms tumors
A

Beckwith-Weidemann syndrome (BWS)

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15
Q

What is Renal Ectopia (Malposition)?

A

failure of the kidney to rise out of the pelvis or to rotate medially

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15
Q

What causes Von Hippel Lindau disease?

A

a mutation in VHL gene on 3p25

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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)

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17
Q

______ or ______ atresia is always present in multicystic dysplasia of the kidney (MCDK).

A

Ureteral; ureteropelvic

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17
Q

What causes WAGR (Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation)?

A

deletion of 11p13 including PAX6 and WT1

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18
Q

When does a Nephroblastoma (Wilms tumor) present?

A

age 4-6

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19
Q

What does a Nephroblastoma (Wilms tumor) consist of?

A
  • solitary budging tumor
  • triphasic histology:
    • stromal (fibroblastic)
    • blastemal (small round blue cells)
    • epithelial (tubules) components
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20
Q

What other findings are usually found in pts with Autosomal recessive polycystic kidney disease?

A
  • liver is grossly enlarged, with bile duct proliferation and periportal fibrosis called congenital hepatic fibrosis (CHF)
  • HTN
  • growth retardation
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20
Q

What causes Tuberous sclerosis?

A
  • mutations in TSC1 on 9q34
  • mutaions in TSC2 on 16p13
21
Q

How does Multicystic dysplasia of the kidney (MCDK) occur?

A

from an abnormal induction of the metanephric blastema by the ureteral bud

22
Q

What is Renal Hypoplasia?

A

the under development of a kidney with contralateral compensatory hypertrophy

23
Q

What is the tx for Congenital Mesoblastic Nephroma?

25
Q

What causes Autosomal dominant polycystic kidney disease?

A
  • mutations in PKD1 (90%) on 16p13
  • mutations in PKD2 (10%) on 4q21
26
Q

This disease is caused from an abnormal induction of the metanephric blastema by the ureteral bud.

A

Multicystic dysplasia of the kidney (MCDK)

27
Q

What is Acquired renal cystic disease (ARCD)?

A
  • cortical cysts filled with clear fluid
  • usually 0.5cm in diameter that may grow to 3cm
  • later develop in the medulla.
28
Q

What is the most common renal lesion?

A

simple cysts

30
Q

What is Renal Dysplasia?

A
  • abnormal metanephric tissue differentiation of the kidney tissue with cysts and heterotopic tissues such as cartilage
  • due to pleuripotent potential of renal anlage
31
Q

What is the prognosis for Renal Agenesis/Aplasia?

A

incompatible with postnatal life :(

31
Q

How does a Nephroblastoma (Wilms tumor) look on imaging?

A

a solitary abdominal mass with “claw sign”

32
Q

What does a solitary abdominal mass with “claw sign” indicate?

A

Nephroblastoma (Wilms tumor)

35
Q

This is failure of the kidney to rise out of the pelvis or to rotate medially.

A

Renal Ectopia (Malposition)

36
Q

Which kidney is most often affected in Renal Agenesis/Aplasia?

38
Q

How do the kidneys appear in Nephronophthisis-medullary cystic kidney disease complex (NMCD)?

A
  • 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
Q

What is the most common kidney tumor from age 0-6?

A

Congenital Mesoblastic Nephroma

40
Q

What does due to PKHD1 on 6p21 encode?

A

fibrocystin

42
Q

What happens to the kidneys in Autosomal dominant polycystic kidney disease?

A
  • 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
Q

Name 2 genetic syndromes that Wilms tumors are associated with.

A
  1. Beckwith-Weidemann syndrome (BWS)
  2. WAGR (Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation)
45
Q

How does someone get Nephronophthisis-medullary cystic kidney disease complex (NMCD)?

A

it’s auto recessive

46
Q

These are:

  • cortical cysts filled with clear fluid
  • usually 0.5cm in diameter that may grow to 3cm
  • later develop in the medulla.
A

Acquired renal cystic disease (ARCD)

46
Q

DX?

  • liver is grossly enlarged, with bile duct proliferation and periportal fibrosis called congenital hepatic fibrosis (CHF)
  • HTN
  • growth retardation
A

Autosomal recessive polycystic kidney disease

48
Q

What does ARCD stand for?

A

Acquired renal cystic disease

50
Q

Pts with horseshoe kidney are at increased risk for ______.

A

urolithiasis

51
Q

What is the Tuberous sclerosis phenotype?

A
  • facial nevi
  • cardiac rhabdomyomas
  • epilepsy
  • angiofibromas
  • mental retardation
  • multiple renal angiomyolipomas
52
Q

What is the Von Hippel Lindau disease phenotype?

A
  • retinal hemangioblastomas
  • cerebellar hemangioblastomas
  • pheochromocytomas
  • renal cell carcinoma
52
Q

What does a mutation in VHL gene on 3p25 cause?

A

Von Hippel Lindau disease

53
Q

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.

A

Renal Dysplasia

54
Q

_____ may result in ureteral obstruction and discoid shaped kidneys.

A

Renal Ectopia (Malposition)

56
Q

What may develop from Acquired renal cystic disease (ARCD)?

A

renal cell carcinoma

57
Q

What causes Autosomal recessive polycystic kidney disease?

A

mutations o PKHD1 on 6p21

59
Q

How does the kidney appear in Multicystic dysplasia of the kidney (MCDK)?

A
  • 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
Q

Name the 2 most common pediatric renal tumors.

A
  1. Congenital Mesoblastic Nephroma
  2. Nephroblastoma (Wilms tumor)
61
Q

Where do cysts develop in Von Hippel Lindau disease?

A
  • renal
  • pancreatic
  • hepatic
  • epididymal
62
Q

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
A

Autosomal dominant polycystic kidney disease

63
Q

This is the anlage of the kidneys is fused (90% of the time at the lower pole).

A

horseshoe kidney

64
Q

What does a deletion of 11p13 including PAX6 and WT1 cause?

A

WAGR (Wilms tumor, Aniridia, Genitourinary malformation and mental Retardation)

65
Q

This kidney disease is due to failure of the metanephric diverticulum to develop or bc of its early degeneration.

A

Renal Agenesis/Aplasia

66
Q

What does NMCD stand for?

A

Nephronophthisis-medullary cystic kidney disease complex

67
Q

What are the kidneys like in Autosomal recessive polycystic kidney disease?

A
  • 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
Q

Ureteral or ureteropelvic atresia is always present in _____.

A

Multicystic dysplasia of the kidney (MCDK)

CVPR: Renal (Exam 4) (29 decks)

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