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Renal SOH > Inherited kidney disorders > Flashcards

Inherited kidney disorders Flashcards

1
Q

ADPKD - definition

A

Autosomal dominant polycystic kidney disease

Massive bilateral renal enlargement

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2
Q

ADPKD - who gets it?

A

Adults (mid-life)

All races and ethnic groups affected

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3
Q

ADPKD - genetics

A

PKD gene 1 mutations - chromosome 16

PKD gene 2 mutations - chromosome 4

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4
Q

ADPKD - which is the most commonly mutated gene?

A

PKD1 - chromosome 16

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5
Q

ADPKD - pathology

A

Massive bilateral renal enlargement
Kidneys are >1kg
Subsequent reduction in renal function
Multiple cysts of varying size cause a distortion of kidney shape
Cysts can arise at any part of the nephron

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6
Q

In ADPKD, cysts are confined to the kidneys. True or False?

A

False

  • common to get cysts in other organs (e.g. liver)
  • there is no functional effect at these other organ sites
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7
Q

ADPKD - clinical features (renal)

A

Reduced urine concentration ability
Chronic pain
Abdominal fullness
Haematuria - if cysts rupture

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8
Q

ADPKD - clinical features (extra-renal)

A 
Hypertension - often presents early
Hepatic cysts 
Berry aneurysms - at circle of willis 
Cardiac disease
Diverticular disease
Hernias
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9
Q

ADPKD - Patient presents with headaches and subsequent loss of consciousness. What is the most likely cause?

A

Berry aneurysm

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10
Q

ADPKD - what is the most likely extra renal manifestation ?

A

Hepatic cysts

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11
Q

ADPKD - investigations

A

US

  • presence of multiple bilateral cysts
  • renal enlargement

X-ray
- cyst calcification in the renal area

CT/MRI
- only if unclear findings on US

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12
Q

ADPKD - management

A 
Hypertension control 
Hydration
Proteinuria reduction
- ACE inhibitors / ARBs
Tolvaptan
- CA which reduces cyst volume and progression
- causes increased urine production
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13
Q

ADPKD in children

A

Rare

A single cyst in the kidney in high risk pts is enough for diagnosis

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14
Q

ARPKD - definition

A

Autosomal Recessive Polycystic Kidney Disease

Uniform bilateral renal enlargement

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15
Q

What is the most frequent life threatening hereditary disease

A

Polycystic kidney disease

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16
Q

ARPKD - who gets it

A

Young children

- commonly occurs immediately after birth

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17
Q

ARPKD - genetics

A

PKDH1 on chromosome 6

18
Q

ARPKD - pathology

A

Kidneys become enlarged but their shape is maintained
No gross distortion of kidney
Cysts appear from the collecting duct system
Dilation of collecting ducts in the distal part of the nephron

19
Q

ARPKD - associated diseases

A

Congenital hepatic fibrosis

20
Q

ARPKD - clinical features

A

Varies from person-person
Kidneys are palpable
Hypertension
Recurrent UTI

21
Q

ARPKD - investigations

A

GFR
- slow decline

CT
- renal enlargement is bilateral and symmetrical

22
Q

Where do cysts appear from in ARPKD ?

A

Collecting duct system

23
Q

ARPKD - prognosis

A

If children survive past the first year of life then most will survive beyond 15 years

24
Q

Alports syndrome - definition

A

disorder of the glomerular basement membrane

Disorder of type IV collagen matrix deposition

25
Q

Alport syndrome - genetics

A

X linked inheritance

Mutation (COL4A5 gene) leads to deficient collagenous matrix

26
Q

Alport syndrome - clinical features

A 
Haematuria 
Proteinuria
Hearing loss
Ocular defect
Dysphagia
27
Q

Alport syndrome - investigations

A

Renal biopsy

- variable thickness of the glomerular basement membrane

28
Q

Alport syndrome - management

A

No specific treatment
Control BP
Control proteinuria
RRT

29
Q

Fabrys disease - definition

A

Lysosomal storage disease

Deficiency of alpha-galactosidase A which causes an accumulation of waste products in the body

30
Q

Fabrys disease - genetics

A

X linked

rare

31
Q

Fabrys disease - clinical features

A 
Pain 
- either chronic or acute
Cutaneous: angiokeratomas
- dark red spots
Renal failure 
Cardiomyopathy
Valvular disease
Stroke
32
Q

Fabrys disease - Investigations

A

Renal biopsy
- lamellar inclusions
Skin biopsy
- angiokeratomas (telangectasia) in the umbilical area

33
Q

Fabrys disease - management

A

Enzyme replacement (fabryzyme)

34
Q

Medullary cystic disease - definition

A

Morphologically abnormal renal tubules leading to fibrosis

35
Q

Medullary cystic disease - genetics

A

Autosomal dominant

36
Q

Medullary cystic disease - pathology

A

Cortex and medulla are shrunken

Irregularly distributed cysts of variable size in the aorticomedullary junction / medulla

37
Q

Medullary cystic disease - investigations

A

CT scan

  • no enlarged cysts
  • fibrosis of tubules
38
Q

Medullary cystic disease - management

A

Renal transplantation

39
Q

Medullary sponge kidney - definition

A

Dilation of the collecting ducts

Medulla appears like a sponge

40
Q

Medullary sponge kidney - Investigations

A

Excretion urography

- cysts have calculi

Renal SOH (25 decks)

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