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CVPR > CVPR Week 8: Cystic disease and renal neoplasia > Flashcards

CVPR Week 8: Cystic disease and renal neoplasia Flashcards

1
Q

Types of cystic diseases of the kidney

8 listed

A
  • Multicystic renal dysplasia
  • Polycystic kidney disease
  • Medullary cystic disease
  • Acquired (dialysis-associated) cystic disease
  • Localized (simple) renal cysts
  • Renal cysts in hereditary malformation syndromes (tuberous sclerosis)
  • Glomerulocystic disease
  • Extraparenchymal renal cysts (pyelocalyceal cysts, hilar lymphangitic cysts)
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2
Q

Types of polycystic kidney disease

2 listed

A
  • Autosomal dominant (adult) polycystic disease
  • Autosomal recessive (childhood) polycystic disease
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3
Q

Types of medullary cystic disease

2 listed

A
  • Medullary sponge kidney
  • nephronophthisis
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4
Q

ADPKD AKA

A

Autosomal dominant polycystic kidney disease

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5
Q

ADPKD etiology

A

Autosomal dominant mutation of PDK1 or PDK2 genes

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6
Q

ADPKD epidemiology

A

1 of every 400-1000 live births

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7
Q

ADPKD clinical features and complications

5 listed

A
  • hematuria
  • flank pain
  • TUI
  • Renal stones
  • HTN
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8
Q

ADPKD pathologic features

A
  • Large multicystic kidneys
  • liver cysts
  • berry aneurysms
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9
Q

ADPKD prognosis

A

Chronic renal failure beginning at age 40-60 requiring transplant or dialysis

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10
Q

ADPKD gross histological features

A
  • Bilateral enlarged
  • can weigh as high as 4 Kg each kidney
  • up to 3-4 cm, no intervening parenchyma
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11
Q

ADPKD Gross histological features

A
  • Bilateral enlarged
  • can weigh as high as 4 Kg each kidney
  • up to 3-4 cm, no intervening parenchyma
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12
Q

ADPKD gross histological features

A
  • Bilateral enlarged
  • can weigh as high as 4 Kg each kidney
  • up to 3-4 cm, no intervening parenchyma
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13
Q

ADPKD histological features

A
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14
Q

PDK1 gene genome location

A

Chromosome 16p13.3

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15
Q

PDK1 gene encodes

A

Polycystin-1, a large (460KD0 integral membrane protein)

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16
Q

PDK1 gene gross location

A

Localized to tubular epithelial cells particularly those of the distal nephron

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17
Q

PDK1 gene function

A

not yet clear but it contains domains involved in cell-cell and cell-matrix interactions

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18
Q

PDK2 gene genome location

A

Chromosome 4p21

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19
Q

PDK2 gene encodes

A

plycystin-2 which is an integral membrane protein

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20
Q

PDK2 gene gross location

A

localized to all segments of renal tubules

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21
Q

PDK2 gene function

A

Functions as a Ca2+ permeable cation channel

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22
Q

Possible mechanism of ADPKD

A
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23
Q

ARPKD AKA

A

Autosomal recessive polycystic kidney disease

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24
Q

ARPKD etiology

A

Autosomal recessive mutation of PKHD1 gene

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25
Q

ARPKD pathologic features

A

enlarge cystic kidneys at birth (infantile polycystic kidney disease)

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26
Q

ARPKD clinical features and complications

A

hepatic fibrosis

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27
Q

ARPKD prognosis

A

viable

death in in infancy or childhood

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28
Q

ARPKD gross histologic features

A
  • 1-2 cm uniformly distributed
  • spongy appearance
  • in utero, oligohydramnios or anhydramnios
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29
Q

ARPKD gross histologic features

A
  • 1-2 cm uniformly distributed
  • spongy appearance
  • in utero, oligohydramnios or anhydramnios
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30
Q

ARPKD histologic features

A
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31
Q

ARPKD histologic features

A
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32
Q

PKHD1 gene genome location

A

chromosome 6p21-23

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33
Q

PKHD1 gene encodes

A

a large protein fibrocystin (447-KD) integral membrane protein

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34
Q

Fibrocystin location

A

localized to the primary cilium of tubular cells similar to polycystin 1 and 2

encoded by PKHD1

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35
Q

PKHD1 gene possible mutations?

A

a wide range of possible mutations

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36
Q

Multicystic renal dysplasia prevalence

A

More common than ARPKD

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37
Q

Multicystic renal dysplasia etiology

A
  • no inheritance pattern
  • part of a malformation complex
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38
Q

Multicystic renal dysplasia unilateral/bilateral

A

often unilateral but bilateral cases are often asymmetric

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39
Q

Multicystic renal dysplasia clinical manifestations and complications

A

A/W urinary tract anomalies (uteropelvic obstruction, ureteral agenesis atresia)

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40
Q

Multicystic renal dysplasia gross histological features

A
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41
Q

Multicystic renal dysplasia histological features

A
42
Q

Medullary sponge kidney cyst size

A

1-7mm cysts in the medulla

43
Q

Medullary sponge kidney unilateral/bilateral

A

Typically bilateral and incidental finding on imaging

44
Q

Medullary sponge kidney clinical manifestations and complications

A
  • Renal function is usually normal (cortex is not involved)
  • Renal calculi-obstruction and infection (pyelonephritis) and hematuria
  • some have Marfan, Ehler-Danlos syndrome and Caroli disease
45
Q

Medullary sponge kidney gross histological features

A
46
Q

Medullary cystic disease/Nephronophthisis etiology

A
  • Hereditary form of tubulointerstitial disease secondary to mutations in cilliary proteins
  • Mutations in NPHP1 accounts for ~85% of NPHP type 1 which maps in chromosome 2q13
  • NPHP2 encodes for inversin responsible for NPHP type II and maps to chromosome 9p22-31
  • NPHP3 encodes for nephrocystin-3 responsible for NPHP type III
47
Q

Medullary cystic disease/Nephronophthisis subtypes

A
  • Divided into NPHP types I (juvenile), II (infantile), III (Adolescent) by the onset of ESRD
48
Q

NPHP1 genome location

A

chromosome 2q13

49
Q

NPHP2 genome location

A

chromosome 9p22-31

50
Q

NPHP3 gene encodes

A

encodes nephrocystin-3

51
Q

NPHP2 gene encodes

A

inversin

52
Q

NPHP1 gene encodes

A

nephrocystin-1

53
Q

NPHP3 gene location

A

3q22.1

54
Q

Phenotypic spectrum of children with nephronophthisis

A
55
Q

Nephronophthisis gross histological features

A
56
Q

Nephronophthisis gross histological features

A
57
Q

Identify

A
58
Q

Tumors of the kidney

A
  • Clear cell renal cell carcinoma
  • Papillary renal cell carcinoma
  • Chromophobe renal cell carcinoma
59
Q

% of kidney tumors that are clear cell renal cell carcinoma

A

70-80%

60
Q

% or kidney tumors that are Papillary renal cell carcinoma

A

10-15%

61
Q

% of kidney tumors that are chromophobe renal cell carcinoma

A

5%

62
Q

Risk factors for tumors of the kidney

A

smoking

63
Q

Common etiology of kidney tumors

A
  • most are sporadic
  • some are autosomal dominant (4%)
  • some deletion of 3p
64
Q

What % of kidney tumors are autosomal dominant?

A

4%

65
Q

What percentage of Von Hippel-Lindau (VHL) develop clear cell RCC

A
  • 2/3 to 1/2
  • Even hereditary clear cell RCC without a VHL manifestation involves VHL related genes
66
Q
A
67
Q

The common cause of papillary RCC

A

Hereditary papillary RCC

68
Q

Chromophobe RCC cause

A

multiple chromosome losses and hypodiploidy

69
Q

Renal cell carcinomas are often associated with?

A
  • Polycythemia from the elaboration of erythropoietin
  • Hypercalcemia with tumor production of parathormone-related peptide
  • Steroid hormone release with Cushing syndrome, feminization, or masculinization
70
Q
A
71
Q

Identify

A
72
Q

Causes of sporadic papillary RCC

A
  • Trisomy 7, 16 and 17
  • Loss of Y
  • Mutated activated MET t(X;1) -> PRCC oncogenes
  • TFE on X transfusion with PRCC on chromosome 1
  • clear cell papillary RCC
73
Q

Causes of hereditary papillary RCC

A
  • Trisomy 7
  • Mutated, activated MET
74
Q

Causes of sporadic Clear cell RCC

A
  • Translocations 3;6, 3;8, 3;11
  • deletions on chromosome 3 (3p21)
75
Q

Causes of hereditary clear cell RCC

A
  • Loss of VHL
  • Inactivated, mutated VHL
  • Hypermethylation of VHL
76
Q

Clear cell renal carcinoma gross histological features

A
77
Q

Most common type of RCC

A

Clear cell renal cell carcinoma

78
Q

Clear cell renal cell carcinoma histological features

A
79
Q

Papillary RCC gross histological features

A
80
Q

Papillary RCC histological features

A
81
Q

Papillary RCC histological features

A

idk wasn’t fucking labled

82
Q

Wasn’t labled either

A
83
Q

RCCs

A
84
Q

Wilms tumor AKA

A

Nephroblastoma

85
Q

What is the most common childhood tumor?

A

Wilms tumor (nephroblastoma)

86
Q

Wilms tumor clinical manifestations and complications

A
  • abdominal pain
  • fever
  • anemia
  • hematuria
  • hypertension (25-30% of children)
87
Q

Wilms tumor diagnosis

A

diagnosis can only be made on the histologic assessment of the tumor

88
Q

Wilms tumor genetics

A

Germline genetic and epigenetic variants in Wilms tumor involve WT1 and the 11p15.5 locus

89
Q

WT1 mutations

A
  • in Wilms tumor with aniridia, genitourinary malformations and mental retardation (WAGR)-syndrome patients
  • Patient with WAGR syndrome have an earlier age of Wilms tumor diagnosis and more frequent occurence of bilateral disease
90
Q

Denys-Drash Syndrome

A

(DDS)

characterized by diffuse mesangial sclerosis leading to early-onset renal failure, intersex disorders that can range from ambiguous to normal-appearing female in both XY & XX individuals and a high-risk of Wilms tumor (some report 74%)

91
Q

Question 1

A
92
Q

Question 2

A
93
Q

Question 3

A
94
Q

Question 4

A
95
Q

Question 5

A
96
Q

Question 6

A
97
Q

Question 7

A
98
Q

Question 8

A
99
Q

Question 9

A
100
Q

Normal functions

A

CVPR (93 decks)

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