Inherited disorders of the kidney Flashcards Preview

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Flashcards in Inherited disorders of the kidney Deck (63):
1

How can polycystic kidney disease be categorised?

Autosomal recessive
Autosomal dominant

2

Which type of polycystic kidney disease is common?

Autosomal dominant

3

Which ethnicity gets polycystic kidney disease most often?

Equal incidence across the races

4

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

Chromosome 16 (common) - PKD1
Chromosome 4 - PKD2

5

Are PKD1 or PKD2 mutations associated with a worse prognosis?

PKD1 (develop failure at an earlier stage)

6

How do PKD kidneys appear on USS?

Large with many cysts (bilateral in nature)

7

Where do the cysts in ADPKD arise from?

Renal tubules

8

Benign adenomas are associated with ADPKD. T/F

True!

9

How does ADPKD present clinically?

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

10

How does haematurea arise from ADPKD?

Cyst rupture
Cystitis
Stones

11

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

Common
Younger patients

12

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

Hepatic

13

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

10 years post renal cysts
Normal liver function (commonly) OR SoB, ankle swelling, pain

14

Which type of intra cranial aneurysm is associated with ADPKD?

Berry aneurysm (arising from circle of willis)

15

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

True

16

What are the cardiac features of ADPKD?

Mitral valve prolapse
Aortic valve prolapse
Collagenous/myxomatous valve degeneration

17

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

Diverticular disease
Liver cysts (most common)

18

What are the complications of diverticular disease?

Diverticulitis
Perforation

19

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

False - increased risk of abdominal & inguinal

20

How is ADPKD diagnosed?

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

21

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

Cyst calcification

22

Can ADPKD present in children?

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

23

How can ADPKD and ARPKD in children be differentiated?

USS showing congenital hepatic fibrosis is suggestive of ARPKD

24

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

False

25

When is genetic counselling required with respect to ADPKD?

Pre testing
Post testing

26

How is ADPKD managed?

Tolvaptan
BP control & proteinuria reduction
Hydrate
Renal replacement therapy

27

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

Antibiotics +/- drainage +/- excision

28

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

Young children
Hepatic lesions (at time of diagnosis)

29

How common is ARPKD?

Uncommon

30

Where is the mutation in ARPKD found?

Chromosome 6

31

Describe the pattern of renal involvement in ARPKD?

Bilateral
Symmetrical

32

How is the urinary tract affected in ARPKD?

It usually isn't

33

Where do cysts associated with ARPKD arise from?

Collecting ducts

34

How does ARPKD present?

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

35

How fast does the GFR in ARPKD decline?

Slowly

36

How is ARPKD diagnosed?

USS
CT/MRI if unable to visualise clearly

37

What is the prognosis of ARPKD?

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

38

What is Alport's syndrome?

Hereditary nephritis due to a disorder of type 4 collagen

39

How is Alport's syndrome inherited?

X linked

40

How does Alport's syndrome present?

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

41

When should Alport's syndrome be suspected?

Haematuria and hearing loss

42

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

Biopsy
Variable thickness of GBM

43

How is Alport's syndrome treated?

BP & proteinuria control
Renal replacement therapy

44

What is Anderson Fabry's disease?

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

45

How is Anderson Fabry's disease inherited?

X-linked

46

Which systems are affected by Anderson Fabry's disease?

Kidneys
Liver
Lungs
Erythrocytes

47

How common is Anderson Fabry's disease?

Un

48

How does Anderson Fabry's disease present?

Renal failure
Angiokeratomas
Cardiomyopathy
Valvular disease
Stroke
Acroparaesthesia
Psychiatric problems

49

How is Anderson Fabry's disease diagnosed?

Plasma/leucocyte a-GAL activity
Renal biopsy
Skin biopsy

50

How is Anderson Fabry's disease managed?

Fabryzyme enzyme replacement
Complication management

51

How is medullary cystic kidney disease inherited?

Autosomal dominant

52

What is medullary cystic kidney disease?

Abnormal renal tubules --> renal fibrosis

53

How will medullary cystic kidneys appear on USS?

Normal/small

54

Where do the cysts arise in medullary cystic kidneys?

Corticomedullary junction
Medulla

55

Which age group is affected by medullary cystic kidneys?

>28

56

How is medullary cystic kidney disease diagnosed?

Family history
CT scan

57

How is medullary cystic kidney disease treated?

Renal transplant

58

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

Uncommon
Sporadically

59

What is the pathological process occuring in medullary sponge kidney?

Dilation of collecting ducts

60

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

Medullary sponge kidney

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

61

How is medullary sponge kidney diagnosed?

Excretory urogram (showing calculi)

62

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

Uncommon

63

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

ADPKD

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