[Inherited Kidney Disorders] Flashcards

1
Q
A

Autosomal dominant polycystic kidney disease (APKD)

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2
Q
A

PKD2

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3
Q
A

T

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4
Q
A

haemorrhage into cysts

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5
Q
A

enlargened

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6
Q
A

abdominal

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7
Q
A

liver cysts

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8
Q
A

intra-cranial cysts leading to sub-arachnoid haemorrhage

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9
Q
A

mitral valve prolapse

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10
Q
A

<80

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11
Q
A

aggressive BP control

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12
Q
A

Laparoscopic cyst removal

nephrectomy

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13
Q
A

silent clinically for a long time

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14
Q
A

USS screening

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15
Q
A

> 3 cysts (uni/bilateral)

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16
Q
A

> 2 cysts BILATERALLY

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17
Q
A

> 4 cysts BILATERALLY

18
Q
A

MRI cranial angiography

19
Q
A

infancy

20
Q
A

autosomal recessive

autosomal dominant

21
Q
A

recessive (20% ESRF in children)

22
Q
A

dominant (rare!)

23
Q
A

medulla

24
Q
A

cysts restricted to renal medulla

25
Q
A

decreased ability to concentrate urine.

26
Q
A

neuro-oculo-cutaneous symptoms

27
Q
A

Von Hippel Lindau syndrome

Tuberous Sclerosis

28
Q
A

Von Hippel Lindau syndrome

29
Q
A

tumour supressor gene

30
Q
A

harmatomas

31
Q
A

COL4A5 gene

32
Q
A

alpha-5 chain in type 4 collagen

33
Q
A

x-linked

34
Q
A

Goodpastures

35
Q
A

GBM splitting

36
Q
A

haematuria
proteinuria
renal insufficiency

37
Q
A

lysosomal storage disease due to enzyme deficiency

accumulation of glycophingolipids at multiple sites

38
Q
A

Rhubarb, spinach, tea

39
Q
A

oxalate renal stones

calcinosis

40
Q
A

liver transplant

41
Q
A

cysteine renal stones