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Renal > Inherited Kidney Disease > Flashcards

Inherited Kidney Disease Flashcards

1
Q

Mutation in which chromosome causes polycystic kidney disease 1

A

16

Majority of cases caused by this

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2
Q

Mutation in which chromosome causes polycystic kidney disease 2

A

4

Fewer cases caused by this mutation

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3
Q

Describe the pathology of ADPKD

A

Epithelial lined cysts arise from a small population of renal tubules
Cysts can become massively enlarged so the kidneys increase in size

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4
Q

ADPKD has the potential to become malignant - true or false

A

True

Very rare, more likely to develop benign adenomas

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5
Q

What are the renal features of ADPKD

A 
Reduced urine concentration ability
Chronic pain
Hypertension
Haematuria 
Cyst infection 
Renal failure
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6
Q

What is the most common extra renal manifestation of ADKPD

A

Hepatic cysts

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7
Q

How do hepatic cysts present

A

SOB
Pain
Ankle swelling
Liver function generally preserved

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8
Q

List some extra-renal complications of ADPKD

A 
Hepatic cysts 
Intra-cranial aneurysms - can lead to stroke 
Mitral/aortic valve prolapse 
Valvular disease 
Diverticular disease 
Hernias
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9
Q

How do you diagnose ADPKD

A

US = will show cysts and renal enlargement
May need CT/MRI if unclear
Genetic tests

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10
Q

Can ADPKD present in children

A

Yes
Early onset can be in-utero or first year of life
Similar renal involvement to adults

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11
Q

How do you manage ADPKD

A

Rigorous BP control
Hydration
Proteinuria reduction
Tolvaptan - reduces cyst volume and progression
May need dialysis or transplant if the kidneys fail

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12
Q

Mutation in which chromosome leads to ARPKD

A

chromosome 6

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13
Q

Who is affected by ARPKD

A

Young children

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14
Q

Describe the pathophysiology of ARPKD

A

Cysts develop from collecting duct
Renal involvement is usually bilateral and symmetrical
Urinary tract is normal

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15
Q

Describe the clinical presentation of ARPKD

A

Palpable kidneys
Hypertension
Recurrent UTI
Slow decline in GFR

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16
Q

What causes Alport’s syndrome

A

X-linked mutation

Causes deficient type IV collagen matrix

17
Q

Hoe does Alport’s syndrome present

A 
Haematuria 
Proteinuria seen in late disease 
SN deafness 
Ocular defects 
Leiomyomatosis of oesophagus or genitalia
18
Q

How do you diagnose Alport’s syndrome

A

Renal biopsy - variable thickness of glomerular basement membrane
From history

19
Q

How do you treat Alport’s syndrome

A

Aggressive treatment of BP and proteinuria

Dialysis or transplant

20
Q

What causes Anderson Fabry’s disease

A

Inborn error of glycosphingolipid metabolism - not enough enzyme
Lysosomal storage disease
Caused by X-linked disorder

21
Q

What parts of the body does Anderson Fabry’s disease affect

A

Kidneys
Liver
Lungs
Erythrocytes

22
Q

What are the clinical features of Anderson Fabry’s disease

A 
Renal failure 
Angiokeratomas 
Decreased sweating 
Tinnitus 
Cardiomyopathy and valvular disease 
Stroke 
Acroparaethesia - pins and needles 
Psychiatric symptoms
23
Q

How do you diagnose Anderson Fabry’s disease

A

Plasma/leukocyte a-GAL activity
Renal biopsy
Skin biopsy

24
Q

How do you treat Anderson Fabry’s disease

A

Enzyme replacement - Fabryzyme

Manage the complications as appropriate

25
Q

Describe the pathophysiology of Medullary cystic kidney

A

Autosomal dominant inherited condition
Morphologically abnormal renal tubules leading to fibrosis
May have small kidneys
Cysts in the corticomedullary junction/medulla

26
Q

How do you diagnose medullary cystic kidney

A

Family history

CT scan

27
Q

How do you treat medullary cystic kidney

A

Renal transplant

28
Q

Describe the pathophysiology of medullary sponge kidney

A

Sporadic inheritance
Gives dilatation of the collecting ducts
Medullary region appears spongy
cysts with calculi

29
Q

How do you diagnose medullary sponge kidney

A

Excretion urography - will show the calculi

Renal (18 decks)

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