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Gen Med (Renal) > Inherited Renal Disease > Flashcards

Inherited Renal Disease Flashcards

1
Q

Which mutation causing ADPKD is most common?

A

PKD1

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2
Q

The PKD gene 1 mutation, accounting for 85% of cases of ADPKD is found on which chromosome?

A

16

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3
Q

The PKD gene 2 mutation, accounting for 15% of cases of ADPKD is found on which chromosome?

A

4

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4
Q

What happens to the size of the kidneys in polycystic kidney disease?

A

They are enlarged

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5
Q

In addition to cysts, which other benign pathology is seen in the kidneys of 25% of those with ADPKD?

A

Adenomas

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6
Q

Patients with ADPKD caused by a PKD1 mutation tend to develop ESRF around what age?

A

50

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7
Q

Patients with ADPKD caused by a PKD2 mutation tend to develop ESRF around what age?

A

70

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8
Q

Why may patients with ADPKD experience pain and haematuria?

A

Cyst haemorrhage or rupture

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9
Q

What is the mean age of development of hypertension in patients with ADPKD?

A

31

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10
Q

What are the two most significant extra-renal manifestations of ADPKD?

A

Hepatic cysts and berry aneurysms

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11
Q

When do liver cysts tend to present in individuals with ADPKD?

A

10 years after renal cysts

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12
Q

Do the liver cysts seen in ADPKD have any effect on liver function?

A

Usually not

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13
Q

Rupture of a berry aneurysm in someone with ADPKD leads to what?

A

Subarachnoid haemorrhage

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14
Q

Berry aneurysms associated with ADPKD are normally located in which vascular territory of the brain?

A

Anterior circulation

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15
Q

Which cardiac abnormalities are associated with ADPKD?

A

Mitral/aortic valve prolapse

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16
Q

There is an increased risk of which GI condition and its complications in individuals with ADPKD?

A

Diverticular disease

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17
Q

Which imaging investigation is used first line to identify ADPKD?

A

Renal ultrasound

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18
Q

Which imaging investigation can measure the volume of cysts in ADPKD?

A

MRI

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19
Q

What investigation is used to screen for berry aneurysms in individuals with an affected first degree family member with ADPKD?

A

MR angiogram

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20
Q

Management of ADPKD involves rigorous control of hypertension and proteinuria with what drugs?

A

ACE inhibitor or ARB

21
Q

How should fluid and salt intake be altered in individuals with ADPKD?

A

High fluid intake, low salt intake

22
Q

Tolvaptan is a drug licensed to treat which inherited renal condition?

A

ADPKD

23
Q

What type of drug is tolvaptan?

A

V2 vasopressin receptor antagonist

24
Q

The offspring of an individual with ADPKD has what % chance of inheriting the condition?

A

50%

25
Q

Sometimes it can be difficult to distinguish between AD and AR polycystic kidney disease in children. What feature on ultrasound would be suggestive of recessive disease?

A

Congenital hepatic fibrosis

26
Q

Who is ARPKD seen in?

A

Young children

27
Q

ARPKD is always associated with what other feature?

A

Hepatic lesions

28
Q

The gene affected in ARPKD is found on which chromosome?

A

6

29
Q

In ARPKD, cysts appear from which part of the kidney?

A

Collecting ducts

30
Q

How may ARPKD present?

A

Palpable kidneys, hypertension and recurrent UTIs

31
Q

Is there any specific therapy for ARPKD?

A

No

32
Q

In the majority of cases affecting adults, how is medullary cystic kidney inherited?

A

Autosomal dominant

33
Q

What happens to the size of the kidneys in medullary cystic kidney?

A

They are normal or small

34
Q

Clinical features of medullary cystic kidney are due to enuresis. What are some examples of these features?

A

Polyuria, polydipsia, salt wasting

35
Q

How is medullary cystic kidney usually treated?

A

Renal transplant

36
Q

How is medullary sponge kidney inherited?

A

Sporadically

37
Q

The cysts in medullary sponge kidney are associated with what other abnormality?

A

Calculi

38
Q

How is Alport’s syndrome inherited?

A

X linked

39
Q

Alport’s syndrome is caused by a deficiency of what?

A

Type IV collagen

40
Q

What is the characteristic feature of Alport’s syndrome?

A

Haematuria

41
Q

The presence of what in the urine confers a bad prognosis in Alport’s syndrome?

A

Protein

42
Q

What are the two most common extra-renal features of Alport’s syndrome?

A

Sensorineural hearing loss and ocular defects

43
Q

A renal biopsy of Alport’s syndrome shows what?

A

Splitting (variable thickness) of the GBM

44
Q

Is there any specific treatment for Alport’s syndrome?

A

No

45
Q

How is Anderson-Fabry’s disease inherited?

A

X linked

46
Q

Anderson-Fabry’s disease is caused by a deficiency of what?

A

Alpha-galactosidase A

47
Q

What is the main dermatological feature of Anderson-Fabry’s disease?

A

Angiokeratomas

48
Q

How is Anderson-Fabry’s disease treated?

A

Enzyme replacement therapy

Gen Med (Renal) (18 decks)

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