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Pathoma LAH > Renal: 12.1: Congenital > Flashcards

Renal: 12.1: Congenital Flashcards

1
Q

How does autosomal recessive polycystic kidney disease (PKD) present?

A

worsening renal failure and HTN in an infant

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2
Q

How does a pt get medullary cystic kidney disease?

A

it’s inherited (auto. dominant)

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3
Q

What are some problems with horseshoe kidney?

A

increased risk of:

  • hydronephrosis
  • renal stones
  • infections
  • renal cancer
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4
Q

Is a mutated APKD1 or APKD2 gene more common?

A

APKD1

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5
Q

Dx?

  • a noninherited, congenital malformation of the renal parenchyma
  • characterized by cysts and abnormal tissue (esp. cartilage)
A

dysplastic kidney

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6
Q

When the the ureteric bud fails to induce differentiation of metanephric mesenchyme, ______ results.

A

dysplastic kidney

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7
Q

Embryologically, what causes dysplastic kidney to occur?

A

the ureteric bud fails to induce differentiation of metanephric mesenchyme

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8
Q

Dx?

  • oligohydramnios with Potter sequence:
    • lung hypoplasia
    • flat face
    • low set ears
    • developmental defects of extremities
A

bilateral renal agenesis

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9
Q

Dx?

  • bilateral enlarged kidneys with cysts in the cortex and medulla
A

polycystic kidney disease (PKD)

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10
Q

What are the findings in bilateral renal agenesis?

A
  • oligohydramnios
  • Potter sequence:
    • lung hypoplasia
    • flat face
    • low set ears
    • developmental defects of extremities
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11
Q

What is autosomal dominant polycystic kidney disease (PKD)?

A
  • bilateral enlarged kidneys with cysts in the cortex and medulla
  • in a young adult
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12
Q

What is a horseshoe kidney?

A
  • conjoined kidneys
  • usu. connected at the lower pole
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13
Q

What is a dysplastic kidney?

A
  • a noninherited, congenital malformation of the renal parenchyma
  • characterized by cysts and abnormal tissue (esp. cartilage)
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14
Q

How do horseshoe kidneys perform, functionally?

A

normal

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15
Q

A horseshoe kidney gets stuck on the _____ as it ascends into the abdomen.

A

inferior mesenteric artery

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16
Q

Dx?

  • mutated APKD1 or APKD2 gene
A

autosomal dominant polycystic kidney disease (PKD)

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17
Q

What problem occurs embriologically to cause unilateral kidney agenesis?

A

the ureteric bud fails to develop and induce differentiation of metanephric mesenchyme

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18
Q

What other pathology is autosomal recessive polycystic kidney disease (PKD) associated with?

A
  • Potter sequence
  • congenital hepatic fibrosis
  • hepatic cysts
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19
Q

What is the most common congenital renal anomaly?

A

horseshoe kidney

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20
Q

What is the tx for autosomal dominant polycystic kidney disease (PKD)?

A
  • ACE-inhibitors
  • ARBs
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21
Q

What is medullary cystic kidney disease?

A

cysts in the medullary collecting ducts –> parenchymal fibrosis –> shrunken kidneys –> renal failure

22
Q

What congenital anomaly has a high rate of horseshoe kidney?

A

chromosomal aneuploidy syndromes, such as:

  • Turner syndrome
  • trisomies 13, 18, 21
23
Q

What is polycystic kidney disease (PKD)?

A

bilateral enlarged kidneys with cysts in the cortex and medulla

24
Q

Is renal agenesis unilateral or bilateral?

A

can be either

25
Q

How does a pt get polycystic kidney disease (PKD)?

A

it’s inherited (auto. dominant and auto. recessive forms)

26
Q

Where is a horseshoe kidney normally located?

A

in the lower abdomen

27
Q

This causes hypertrophy of one kidney –> renal failure later in life.

A

unilateral kidney agenesis

28
Q

What is the underlying mutation that causes autosomal dominant polycystic kidney disease (PKD)?

A

mutated APKD1 or APKD2 gene

29
Q

Why do pts with autosomal dominant polycystic kidney disease (PKD) have HTN?

A

increased renin

30
Q

Dx?

  • Young adult with:
    • HTN
    • hematuria
    • flank pain
    • freq. urinary infections
    • worsening renal failure
A

autosomal dominant polycystic kidney disease (PKD)

31
Q

What is autosomal recessive polycystic kidney disease (PKD)?

A
  • bilateral enlarged kidneys with cysts in the cortex and medulla in an infant
  • cystic dilation of the collecting ducts
32
Q

What other pathology is autosomal dominant polycystic kidney disease (PKD) associated with?

A
  • berry aneurism
  • hepatic cysts
  • mitral valve prolapse
  • *** “think cysts in the kidney, cysts in the brain, cysts in the liver”
33
Q

Dx?

  • cysts in the medullary collecting ducts –> parenchymal fibrosis –> shrunken kidneys –> renal failure
A

medullary cystic kidney disease

34
Q

What is the prognosis for medullary cystic kidney disease?

A

poor

35
Q

If a baby presents with s/s of portal HTN, think _____.

A

autosomal recessive polycystic kidney disease (PKD)

36
Q

How does autosomal dominant polycystic kidney disease (PKD) present?

A
  • Young adult with:
    • HTN
    • hematuria
    • flank pain
    • freq. urinary infections
    • worsening renal failure
37
Q

Where does the kidney develop in the embryo?

A

in the pelvis

38
Q

Dx?

  • bilateral enlarged kidneys with cysts in the cortex and medulla in an infant
  • cystic dilation of the collecting ducts
A

autosomal recessive polycystic kidney disease (PKD)

39
Q

What is renal agenesis?

A

the absence of kidney formation

40
Q

What kidney problem do all these chromosomal aneuploidy syndromes (Turner syndrome; trisomies 13, 18, 21) have in common?

A

high rates of horseshoe kidney

41
Q

On which chromosome is APKD2 found?

A

ch. 4

42
Q

This is a conjoined kidney, usu. connected at the lower pole.

A

horseshoe kidney

43
Q

What does unilateral kidney agenesis lead to?

A

hypertrophy of the existing kidney –> renal failure later in life

44
Q

When does autosomal recessive polycystic kidney disease (PKD) present?

A

usually in infancy

45
Q

On which chromosome is APKD1 found?

A

ch. 16

46
Q

Is dysplastic kidney bilateral or unilateral?

A
  • usu. unilateral
    • if bilateral, distinguish from polycystic kidney disease (PKD)
47
Q

Is polycystic kidney disease (PKD) unilateral or bilateral?

A

ALWAYS bilateral

48
Q

How does a pt get dysplastic kidney?

A

it’s congenital but NOT inherited

49
Q

What are the components of Potter sequence?

A
  • lung hypoplasia
  • flat face
  • low set ears
  • developmental defects of extremities
50
Q

How does congenital hepatic fibrosis present?

A

s/s of portal HTN

51
Q

This is when the ureteric bud fails to develop and induce differentiation of metanephric mesenchyme –> Ž complete absence of kidney and ureter.

A

unilateral kidney agenesis

Pathoma LAH (77 decks)

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