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RENAL MEDICINE > CYSTIC DISEASE OF THE KIDNEY > Flashcards

CYSTIC DISEASE OF THE KIDNEY Flashcards

1
Q

What is cystic renal dysplasia?

A

Inherited cystic disease characterised by an area of undifferentiated mesenchyme or cartilage within the parenchyma. Can be bilateral or unilateral.

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2
Q

What is the main complication of cystic renal dysplasia?

A

Obstructive abnormalities in the ureter and lower urinary tract.

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3
Q

When do people with cystic renal dysplasia typically present?

A

In childhood

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4
Q

What is the treatment for cystic renal dysplasia?

A

Surgical excision

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5
Q

What is the type of inheritance of adult polycystic kidney disease?

A

Autosomal dominant

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6
Q

What is the most common inherited nephropathy?

A

Adult polycystic kidney disease

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7
Q

What is the gene most commonly affected in adult polycystic kidney disease and what chromosome is it found on?

A

PKD 1 on chromosome 16

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8
Q

Where do the cysts in adult polycystic kidney disease develop from?

A

Dilated tubules and Bowman’s capsules

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9
Q

When do people with adult polycystic kidney disease typically present?

A

30-40s

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10
Q

What are the clinical features associated with adult polycystic kidney disease?

A

Hypertension
Acute loin pain
Haematuria
Bilateral large palpable kidneys

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11
Q

What are the complications associated with adult polycystic kidney disease?

A

End-stage renal failure

Hypertension and associated complications

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12
Q

When do people with adult polycystic kidney disease typically develop end stage renal failure?

A

Fifth or sixth decade

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13
Q

How is adult polycystic kidney disease diagnosed?

A

Ultrasound or CT

Genetic testing

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14
Q

Other than the kidney, what other organs are often affected by the same mutation that causes adult polycystic kidney disease?

A 
Liver in 30-40% of cases
Lungs
Pancreas
Ovaries
Spleen
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15
Q

What do most people with adult polycystic kidney disease die of?

A

Cardiovascular events associated with hypertension

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16
Q

How are people with adult polycystic kidney disease managed?

A

Hypertension control
Dialysis
Renal transplant

17
Q

What is the type of inheritance in child polycystic kidney disease?

A

Autosomal recessive

18
Q

What is the prognosis of someone born with polycystic kidney disease?

A

Poor - usually a few weeks, unless renal replacement therapy is given.
Some children can survive for several years with independent renal function.

19
Q

What is the type of inheritance of nephronophthisis?

A

Autosomal recessive

20
Q

At what age do people with nephronophthisis typically present?

A

By the age of 25

21
Q

What is nephronophthisis?

A

Cystic disease of the renal medulla

22
Q

What are the clinical features of nephronophthisis?

A

Polydipsia
Polyuria
Growth retardation
Renal failure

23
Q

What does a renal biopsy of someone with nephronophthisis show?

A

Chronic tubulointerstitial nephritis

24
Q

What is the treatment of nephronophthisis?

A

Dialysis and renal transplantation

25
Q

What is medullary sponge kidney?

A

A cystic disease of the renal medulla which results from dilated collecting ducts in the medulla.

26
Q

How do people with medullary sponge kidney present?

A

Symptoms of UTI
Stone formation
Haematuria.

27
Q

How is medullary sponge kidney diagnosed?

A

Intravenous urography

28
Q

What is the prognosis and treatment of medullary sponge kidney?

A

Good prognosis

Partial nephrectomy may be required

29
Q

What is the only known form of acquired cystic disease of the kidney?

A

Dialysis related cystic disease

RENAL MEDICINE (13 decks)

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