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RENAL > Inherited Kidney Disorders > Flashcards

Inherited Kidney Disorders Flashcards

1
Q

How common is autosomal dominant polycystic kidney disease?

A

Between 1 in 400 and 1 in 1,000

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2
Q

The genes which cause Polycystic Kidney Disease if they are mutated are found in what chromosomes?

A 
PKD1 = Chromosome 16
PKD2 = Chromosome 4
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3
Q

Which causes the majority of Polycystic Kidney Disease, PKD1 or PKD2?

A 
PKD1 = 85%
PKD2 = 15%
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4
Q

Patients with PKD2 develop ESRD earlier than those with PKD1. TRUE/FALSE?

A

FALSE

PKD1 develop ESRD earlier

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5
Q

What does Polycystic disease cause in the kidneys?

A
  • Kidney enlargement
  • Epithelial lined cysts from the renal tubules
  • Benign adenomas
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6
Q

What features of ADPKD can cause haematuria?

A

cyst rupture
cystitis
stones

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7
Q

Does ADPKD increase or reduce the ability of the kidney to concentrate urine?

A

Decreases ability to concentrate it

=> dilute urine

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8
Q

What are the extra-renal manifestations of ADPKD?

A 
Liver Cysts
Intracranial aneurysms
Cardiac Disease
Diverticular Disease
Hernias (abdominal/inguinal)
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9
Q

How long after the diagnosis of polycystic kidney disease, do liver cysts usually appear?

A

10y

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10
Q

Do liver cysts in polycystic kidney disease impair liver function?

A

No

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11
Q

What forms of cardiovascular disease can be manifestations of polycystic kidney disease?

A
  • Mitral/Aortic valve prolapse
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12
Q

How is ADPKD diagnosed?

A
  • Ultrasound = multiple bilateral cysts
  • Renal enlargement
  • CT/MRI (if unclear on US)
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13
Q

What age is deemed “early onset” ADPKD?

A

in utero OR First year of life

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14
Q

What is the main drug used to treat ADPKD, and what does it do?

A

Tolvaptan

- reduce cyst volume and progression

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15
Q

What other factors of ADPKD should be managed?

A

Hypertension-rigorous control
Hydration
Proteinuria reduction
Cyst Haemorrhage/Cyst Infection

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16
Q

What age are patients who are affected by autosomal recessive kidney disease?

A

Young children

17
Q

How common is autosomal recessive kidney disease?

A

Rare condition (incidence 1/20,000)

18
Q

The gene for autosomal recessive kidney disease is found on which chromosome?

A

PKDH1 on chromosome 6

19
Q

Renal involvement is bilateral and symmetrical in autosomal recessive disease. TRUE/FALSE?

A

TRUE

20
Q

Autosomal recessive kidney disease usually presents with cysts arising from where?

A

Collecting ducts

21
Q

Are the kidneys always palpable in autosomal recessive PKD?

A

Yes

22
Q

Do many patients with autosomal recessive PKD reach dialysis?

A

Only around 1/3 as the decline in GFR is slow

23
Q

How is Alport’s syndrome genetically inherited?

A

X linked

24
Q

Alport’s syndrome is a disorder of what type of collagen matrix?

A

Type IV collagen

25
Q

Proteinuria in Alport’s syndrome is an indicator of severe disease. TRUE/FALSE?

A

TRUE

26
Q

What extra-renal manifestations would make you consider Alport’s syndrome as a diagnosis?

A
  • Sensorineural deafness
  • Ocular defects
  • Difficulty swallowing (Leiomyomatosis of oesophagus)
27
Q

What feature on a renal biopsy indicates Alport’s syndrome?

A

Varying thickness of the Glomerular Basement Membrane

28
Q

What is Anderson-Fabrys disease and how is it inherited?

A
  • deficiency of a-galactosidase A
  • X linked disease
  • Affects kidneys,liver,lungs,erythrocytes
29
Q

What clinical features can be seen or found in Anderson-Fabrys disease?

A

Cutaneous - Angiokeratomas

Cardiac

  • cardiomyopathy
  • Valvular disease

Neurological

  • stroke
  • acroparaesthesia
  • Psychiatric
30
Q

How is fabrys disease confirmed?

A
  • Plasma test for a-GAL activity
  • Renal Biopsy
  • Skin Biopsy
31
Q

How is Anderson-Fabrys disease treated?

A

Enzyme replacement - Fabryzyme

32
Q

Is medullary cystic disease autosomal dominant or recessive?

A

dominant

33
Q

Describe the pathophysiology of medullary cystic disease

A
  • Abnormal renal tubules leading to fibrosis

- Cysts in the corticomedullary junction/medulla

34
Q

What is the average age at which medullary cystic disease presents?

A

Presents average age 28 yrs

35
Q

What is the choice of treatment in medullary cystic disease?

A

Renal transplantation

36
Q

What investigation is used to diagnose medullary sponge kidney?

A

Excretion Urography - to demarcate calculi

37
Q

What is medullary sponge kidney and how is it inherited?

A

Dilatation of collecting ducts
Severe = medulla appears like a sponge
Cysts have calculi

Sporadic Inheritance

RENAL (24 decks)

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