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2 - CPR (renal) > 20-6 (Cystic Diseases) > Flashcards

20-6 (Cystic Diseases) Flashcards

1
Q

What age group is affected by Autosomal Dominant Polycystic Kidney Damage?

A

Adults

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2
Q

Is Autosomal Dominant Polycystic Kidney Disease unilateral or bilateral?

A

Bilateral

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3
Q

With Autosomal Dominant Polycystic Kidney Disease, there are multiple expanding cysts in both kidneys. What does that destroy and what is the result?

A
  • Destroys parenchyma

- Renal failure

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4
Q

With Autosomal Dominant Polycystic Kidney Disease, the patient inherits 1 copy of mutated ______ gene

A

APKD gene

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5
Q

What are the 2 most common genes mutated with Autosomal Dominant Polycystic Kidney Disease?

A

PKD1 – more severe

PKD2 – onset is later

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6
Q

On what chromosomes are PKD1 and PKD2 genes with Autosomal Dominant Polycystic Kidney Disease?

A

PKD1 - 16

PKD2 - 4

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7
Q

With Autosomal Dominant Polycystic Kidney Disease, what proteins do the mutated genes encode?

A

Polycystin 1 and Polycystin 2

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8
Q

What is the main pathologic mechanism with Autosomal Dominant Polycystic Kidney Disease and therefore, what ion is increased?

A

Altered mechanosensation of the tubular cell cilia

–> Increases calcium

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9
Q

With Autosomal Dominant Polycystic Kidney Disease, the altered mechanosensation of the cilium in the tubules causes increased calcium. What 2 mechanisms does that cause in order for cysts to form?

A
  1. Proliferation and secretion from epithelial cells

2. Abnormal ECM

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10
Q

If the kidneys are bilaterally enlarged with cysts everywhere, that is likely what disease?

A

Autosomal Dominant Polycystic Kidney Disease

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11
Q

What does abdominal palpation induce with Autosomal Dominant Polycystic Kidney Disease?

A

Dragging sensation of the enlarged kidneys

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12
Q

Some patients are asymptomatic until later stages and some patients have pain with Autosomal Dominant Polycystic Kidney Disease. What is a common manifestation?

A

Insidious hematuria –> polyuria, proteinuria and HTN

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13
Q

Some patients are asymptomatic until later stages and some patients have pain with Autosomal Dominant Polycystic Kidney Disease. What is a common manifestation?

A

Insidious hematuria –> polyuria, proteinuria, HTN

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14
Q

In what 3 populations is the progression to renal failure accelerated with Autosomal Dominant Polycystic Kidney Disease?

A
  1. Blacks with sickle cell trait
  2. Males
  3. HTN
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15
Q

People with Autosomal Dominant Polycystic Kidney Disease commonly have extrarenal congenital anomalies. What are the 3 most common?

A
  1. Liver cysts
  2. Intracranial berry aneurysms
  3. Mitral valve prolapse
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16
Q

How do patients usually die from Autosomal Dominant Polycystic Kidney Disease and what are the common extrarenal anomalies they have?

A
  • Heart disease
  • Intracranial hemorrhage
    (liver cysts, intracranial aneurysm, mitral valve prolapse)
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17
Q

When does Autosomal Recessive Polycystic Kidney Disease present?

A

Childhood

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18
Q

With Autosomal Recessive Polycystic Kidney Disease, what gene is mutated and on what chromosome?

A

PKHD1 gene

– Chromosome 6

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19
Q

With Autosomal Recessive Polycystic Kidney Disease, the PKHD1 gene is mutated. What protein does that encode and where is found?

A

Fibrocystin

– Also found on the tubular cell cilia

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20
Q

With Autosomal Recessive Polycystic Kidney Disease, a majority of children are compound _____

A

Compound heterozygotes

– 1 mutant allele from each parent

21
Q

How do the kidneys look with Autosomal Recessive Polycystic Kidney Disease?

A

Enlarged with smooth appearance

22
Q

When the kidney is cut open, what things will be seen with Autosomal Recessive Polycystic Kidney Disease?

A
  1. Small cysts in the cortex and medulla

2. Dilated channels replace the cortex and medulla

23
Q

If a child with Autosomal Recessive Polycystic Kidney Disease survives, what is the primary concern?

A

Hepatic fibrosis/disease

24
Q

PKHD1 gene mutation

A

Autosomal Recessive (childhood) Polycystic Kidney Disease

25
Q

There are 2 cystic diseases that involve the renal medulla. What are they?

A
  1. Medullary sponge kidney

2. Nepronopthisis

26
Q

There are 2 cystic diseases that involve the renal medulla. What are they?

A
  1. Medullary sponge kidney

2. Nepronophthisis

27
Q

What is found with Medullary Sponge Kidneys?

A

Cystic dilations of the collecting ducts in the medulla

collecting ducts = papillary ducts

28
Q

What is found with Medullary Sponge Kidneys?

A

Cystic dilations of the collecting ducts in medulla

collecting ducts = papillary ducts

29
Q

What type of patient will present with a Medullary Sponge Kidney?

A

Adult with normal renal function

– cystic dilations of the collecting ducts in medulla

30
Q

What is the most common genetic cause of ESRD in younger people?

A

Nepronophthisis

31
Q

What is found with Nepronophthisis?

A

Cysts in medulla at the corticomedullary junction

32
Q

What is found with Nepronophthisis?

A

Cysts in medulla at the corticomedullary junction

33
Q

What is damaged in order to cause renal insufficiency with Nepronophthisis?

A

Cortical tubulointerstitial damage

34
Q

What are the 3 types of Nepronophthisis and what is the most common and what is its inheritance?

A
  1. Sporadic
  2. Familial Juvenile – most common – recessive
  3. Renal - Retinal dysplasia
35
Q

What genes can be mutated with Nepronophthsis?

familial juvenile form

A

NPHP1 -> NPHP11

JBTS2, JBTS3, JBTS9, JBTS11

36
Q

What genes can be mutated with Nepronophthsis?

A

NPHP1 –> NPHP11

JBTS2, JBTS3, JBTS9, JBTS11

37
Q

If a child presents with unexplained renal failure, what should you suspect?

A

Nepronophthisis

38
Q

The NPHP genes that are mutated with Nepronophthisis encode what protein and what is an example?

A

Nephrocystins

ex. Inversin which encodes L->R patterning

39
Q

Multicystic Renal Dysplasia is sporadic. What is seen on the histo of the kidney?

A

Islands of undifferentiated mesenchyme, cartilage and immature collecting ducts

40
Q

Islands of undifferentiated mesenchyme, cartilage and immature collecting ducts could suggest?

A

Multicystic Renal Dysplasia

41
Q

What is Multicystic Renal Dysplasia associated with?

A

Ureter anomalies

42
Q

In what patients will you see Acquired Cystic Disease?

A

Patients with ESRD that have undergone prolonged dialysis

43
Q

Patients with ESRD that have undergone prolonged dialysis will present with what cystic disease?

A

Acquired Cystic Disease

44
Q

Acquired Cystic Disease patients have an increased risk for what malignancy?

A

Renal cell carcinoma

45
Q

Simple cysts are translucent and involve what portion of the kidney?

A

Cortex

46
Q

Describe what Simple Cysts can show on radiographs?

A
  • Hemorrhage of cyst
  • -> pain and calcification
  • -> bizarre radiographic shadows
47
Q

Describe what Simple Cysts can show on radiographs?

A
  • Hemorrhage of cyst
  • -> pain and calcification
  • -> bizarre radiographic shadows
48
Q

What 3 qualities differentiates cysts from tumors?

A

Smooth contours
Avascular
Fluid signals

49
Q

What 3 qualities differentiate cysts from tumors?

A

Smooth contours
Avascular
Fluid signals

2 - CPR (renal) (27 decks)

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