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Year 2 > Inherited disorders of the kidney > Flashcards

Inherited disorders of the kidney Flashcards

1
Q

How can polycystic kidney disease be categorised?

A

Autosomal recessive

Autosomal dominant

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2
Q

Which type of polycystic kidney disease is common?

A

Autosomal dominant

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3
Q

Which ethnicity gets polycystic kidney disease most often?

A

Equal incidence across the races

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4
Q

Where are the mutations found in ADPKD? Which mutation is most common?

A 
Chromosome 16 (common) - PKD1
Chromosome 4 - PKD2
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5
Q

Are PKD1 or PKD2 mutations associated with a worse prognosis?

A

PKD1 (develop failure at an earlier stage)

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6
Q

How do PKD kidneys appear on USS?

A

Large with many cysts (bilateral in nature)

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7
Q

Where do the cysts in ADPKD arise from?

A

Renal tubules

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8
Q

Benign adenomas are associated with ADPKD. T/F

A

True!

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9
Q

How does ADPKD present clinically?

A 
Dilute urine (inability to concentrate)
Chronic loin pain
Hypertension
Haematuria
Cyst infection
Renal failure
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10
Q

How does haematurea arise from ADPKD?

A

Cyst rupture
Cystitis
Stones

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11
Q

How common is hypertension in association with ADPKD? When does it present?

A

Common

Younger patients

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12
Q

Apart from renal cysts, which other type of cyst is associated with ADPKD?

A

Hepatic

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13
Q

How do liver cysts present (in association with PKD)?

A

10 years post renal cysts

Normal liver function (commonly) OR SoB, ankle swelling, pain

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14
Q

Which type of intra cranial aneurysm is associated with ADPKD?

A

Berry aneurysm (arising from circle of willis)

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15
Q

Family members of ADPKD patients are screened for aneurysms. T/F

A

True

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16
Q

What are the cardiac features of ADPKD?

A

Mitral valve prolapse
Aortic valve prolapse
Collagenous/myxomatous valve degeneration

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17
Q

What are the GI features of ADPKD? Which is most common?

A 
Diverticular disease 
Liver cysts (most common)
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18
Q

What are the complications of diverticular disease?

A

Diverticulitis

Perforation

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19
Q

There is an increased risk of oesophageal hernias in ADPKD. T/F

A

False - increased risk of abdominal & inguinal

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20
Q

How is ADPKD diagnosed?

A

USS
CT/MRI (when unable to visualise on USS)
Genetic analysis

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21
Q

What is rarely seen on x-ray of the kidneys?

A

Cyst calcification

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22
Q

Can ADPKD present in children?

A

It’s rare but yes (uteri or 1st year of life)

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23
Q

How can ADPKD and ARPKD in children be differentiated?

A

USS showing congenital hepatic fibrosis is suggestive of ARPKD

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24
Q

Cerebral aneurysms in children with ADPKD are common. T/F

A

False

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25
Q

When is genetic counselling required with respect to ADPKD?

A

Pre testing

Post testing

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26
Q

How is ADPKD managed?

A

Tolvaptan
BP control & proteinuria reduction
Hydrate
Renal replacement therapy

27
Q

How are cyst haemorrhages/infections managed with respect to ADPKD?

A

Antibiotics +/- drainage +/- excision

28
Q

Who is affected by ARPKD? What is it associated with?

A 
Young children 
Hepatic lesions (at time of diagnosis)
29
Q

How common is ARPKD?

A

Uncommon

30
Q

Where is the mutation in ARPKD found?

A

Chromosome 6

31
Q

Describe the pattern of renal involvement in ARPKD?

A

Bilateral

Symmetrical

32
Q

How is the urinary tract affected in ARPKD?

A

It usually isn’t

33
Q

Where do cysts associated with ARPKD arise from?

A

Collecting ducts

34
Q

How does ARPKD present?

A

Varies depending on renal and liver involvement
Palpable kidneys
Hypertension
Recurrent UTI

35
Q

How fast does the GFR in ARPKD decline?

A

Slowly

36
Q

How is ARPKD diagnosed?

A

USS

CT/MRI if unable to visualise clearly

37
Q

What is the prognosis of ARPKD?

A

Poor but better if the child manages to survive the first year of life

38
Q

What is Alport’s syndrome?

A

Hereditary nephritis due to a disorder of type 4 collagen

39
Q

How is Alport’s syndrome inherited?

A

X linked

40
Q

How does Alport’s syndrome present?

A 
Haematuria 
Late proteinuria (bad prognostic indicator)
Sensorineural deafness 
Anterior lenticonus 
Leiomyomatosis
41
Q

When should Alport’s syndrome be suspected?

A

Haematuria and hearing loss

42
Q

How is Alport’s syndrome diagnosed? What will this show?

A

Biopsy

Variable thickness of GBM

43
Q

How is Alport’s syndrome treated?

A

BP & proteinuria control

Renal replacement therapy

44
Q

What is Anderson Fabry’s disease?

A

Inborn error of glycosphingolipid metabolism (deficiency of a-galactosidase A)

45
Q

How is Anderson Fabry’s disease inherited?

A

X-linked

46
Q

Which systems are affected by Anderson Fabry’s disease?

A

Kidneys
Liver
Lungs
Erythrocytes

47
Q

How common is Anderson Fabry’s disease?

A

Un

48
Q

How does Anderson Fabry’s disease present?

A 
Renal failure
Angiokeratomas
Cardiomyopathy 
Valvular disease
Stroke
Acroparaesthesia 
Psychiatric problems
49
Q

How is Anderson Fabry’s disease diagnosed?

A

Plasma/leucocyte a-GAL activity
Renal biopsy
Skin biopsy

50
Q

How is Anderson Fabry’s disease managed?

A

Fabryzyme enzyme replacement

Complication management

51
Q

How is medullary cystic kidney disease inherited?

A

Autosomal dominant

52
Q

What is medullary cystic kidney disease?

A

Abnormal renal tubules –> renal fibrosis

53
Q

How will medullary cystic kidneys appear on USS?

A

Normal/small

54
Q

Where do the cysts arise in medullary cystic kidneys?

A

Corticomedullary junction

Medulla

55
Q

Which age group is affected by medullary cystic kidneys?

A

> 28

56
Q

How is medullary cystic kidney disease diagnosed?

A

Family history

CT scan

57
Q

How is medullary cystic kidney disease treated?

A

Renal transplant

58
Q

How common is medullary sponge kidney? How is it inherited?

A

Uncommon

Sporadically

59
Q

What is the pathological process occuring in medullary sponge kidney?

A

Dilation of collecting ducts

60
Q

In which inherited renal condition do the cysts present in the kidney have calculi?

A

Medullary sponge kidney

Nb - stone formation occurs in MSK which is different to the cyst calcification which can (rarely) be seen in ADPKD

61
Q

How is medullary sponge kidney diagnosed?

A

Excretory urogram (showing calculi)

62
Q

How common is renal failure in association with medullary sponge kidney?

A

Uncommon

63
Q

Which inherited kidney disease patients will do better on dialysis than the vast majority of dialysis patients?

A

ADPKD

Year 2 (72 decks)

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