[Inherited Kidney Disorders] Flashcards
1
Q
A
Autosomal dominant polycystic kidney disease (APKD)
2
Q
A
PKD2
3
Q
A
T
4
Q
A
haemorrhage into cysts
5
Q
A
enlargened
6
Q
A
abdominal
7
Q
A
liver cysts
8
Q
A
intra-cranial cysts leading to sub-arachnoid haemorrhage
9
Q
A
mitral valve prolapse
10
Q
A
<80
11
Q
A
aggressive BP control
12
Q
A
Laparoscopic cyst removal
nephrectomy
13
Q
A
silent clinically for a long time
14
Q
A
USS screening
15
Q
A
> 3 cysts (uni/bilateral)
16
Q
A
> 2 cysts BILATERALLY
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
[inherited]: medullary cystic disease: enuresis is a feature, what is it?
decreased ability to concentrate urine.
26
[inherited]: renal phakamatoses: what are phakomatoses
neuro-oculo-cutaneous symptoms
27
[inherited]: renal phakamatoses: what 2 diseases are contained in this category?
Von Hippel Lindau syndrome
| Tuberous Sclerosis
28
[inherited]: renal phakamatoses: what is the chief cause of inherited renal cancers
Von Hippel Lindau syndrome
29
[inherited]: renal phakamatoses: broadly speaking what is von hippel lindau factor
tumour supressor gene
30
[inherited]: renal phakamatoses: what is formed in the neuro-oculo-cutaneous system in tuberous sclerosis
harmatomas
31
[inherited]: Alport syndrome: mutation in what gene
COL4A5 gene
32
[inherited]: Alport syndrome: what does the gene mutated in this disease code
alpha-5 chain in type 4 collagen
33
[inherited]: Alport syndrome: what pattern of inheritance does this follow in 85% of cases
x-linked
34
[inherited]: Alport syndrome: what is there increased risk of?
Goodpastures
35
[inherited]: Alport syndrome: what is the pathology in alports
GBM splitting
36
[inherited]: Alport syndrome: what clinical signs will there be?
haematuria
proteinuria
renal insufficiency
37
[inherited]: Fabrys disease: what is the pathophysiology behind Fabrys
lysosomal storage disease due to enzyme deficiency
| accumulation of glycophingolipids at multiple sites
38
[inherited]: hyperoxaluria: secondary causes include increased dietary intake of
Rhubarb, spinach, tea
39
[inherited]: hyperoxaluria: high levels of oxalate causes (2)
oxalate renal stones
| calcinosis
40
[inherited]: hyperoxaluria: Tx: primary is due to a genetic defect which can be cured by a ....
liver transplant
41
[inherited]: cystinuria: results in what renal manifestation
cysteine renal stones
