Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Year 2 > Inherited disorders of the kidney > Flashcards

Inherited disorders of the kidney Flashcards

(63 cards)

Start Studying
1
Q

How can polycystic kidney disease be categorised?

A

Autosomal recessive

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Which type of polycystic kidney disease is common?

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Which ethnicity gets polycystic kidney disease most often?

A

Equal incidence across the races

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Where are the mutations found in ADPKD? Which mutation is most common?

A 
Chromosome 16 (common) - PKD1
Chromosome 4 - PKD2
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Are PKD1 or PKD2 mutations associated with a worse prognosis?

A

PKD1 (develop failure at an earlier stage)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How do PKD kidneys appear on USS?

A

Large with many cysts (bilateral in nature)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Where do the cysts in ADPKD arise from?

A

Renal tubules

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Benign adenomas are associated with ADPKD. T/F

A

True!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

How does ADPKD present clinically?

A 
Dilute urine (inability to concentrate)
Chronic loin pain
Hypertension
Haematuria
Cyst infection
Renal failure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How does haematurea arise from ADPKD?

A

Cyst rupture
Cystitis
Stones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

How common is hypertension in association with ADPKD? When does it present?

A

Common

Younger patients

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Apart from renal cysts, which other type of cyst is associated with ADPKD?

A

Hepatic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How do liver cysts present (in association with PKD)?

A

10 years post renal cysts

Normal liver function (commonly) OR SoB, ankle swelling, pain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Which type of intra cranial aneurysm is associated with ADPKD?

A

Berry aneurysm (arising from circle of willis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Family members of ADPKD patients are screened for aneurysms. T/F

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the cardiac features of ADPKD?

A

Mitral valve prolapse
Aortic valve prolapse
Collagenous/myxomatous valve degeneration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the GI features of ADPKD? Which is most common?

A 
Diverticular disease 
Liver cysts (most common)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the complications of diverticular disease?

A

Diverticulitis

Perforation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

There is an increased risk of oesophageal hernias in ADPKD. T/F

A

False - increased risk of abdominal & inguinal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How is ADPKD diagnosed?

A

USS
CT/MRI (when unable to visualise on USS)
Genetic analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is rarely seen on x-ray of the kidneys?

A

Cyst calcification

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Can ADPKD present in children?

A

It’s rare but yes (uteri or 1st year of life)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How can ADPKD and ARPKD in children be differentiated?

A

USS showing congenital hepatic fibrosis is suggestive of ARPKD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Cerebral aneurysms in children with ADPKD are common. T/F

A

False

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
When is genetic counselling required with respect to ADPKD?
Pre testing | Post testing
26
How is ADPKD managed?
Tolvaptan BP control & proteinuria reduction Hydrate Renal replacement therapy
27
How are cyst haemorrhages/infections managed with respect to ADPKD?
Antibiotics +/- drainage +/- excision
28
Who is affected by ARPKD? What is it associated with?
``` Young children Hepatic lesions (at time of diagnosis) ```
29
How common is ARPKD?
Uncommon
30
Where is the mutation in ARPKD found?
Chromosome 6
31
Describe the pattern of renal involvement in ARPKD?
Bilateral | Symmetrical
32
How is the urinary tract affected in ARPKD?
It usually isn't
33
Where do cysts associated with ARPKD arise from?
Collecting ducts
34
How does ARPKD present?
Varies depending on renal and liver involvement Palpable kidneys Hypertension Recurrent UTI
35
How fast does the GFR in ARPKD decline?
Slowly
36
How is ARPKD diagnosed?
USS | CT/MRI if unable to visualise clearly
37
What is the prognosis of ARPKD?
Poor but better if the child manages to survive the first year of life
38
What is Alport's syndrome?
Hereditary nephritis due to a disorder of type 4 collagen
39
How is Alport's syndrome inherited?
X linked
40
How does Alport's syndrome present?
``` Haematuria Late proteinuria (bad prognostic indicator) Sensorineural deafness Anterior lenticonus Leiomyomatosis ```
41
When should Alport's syndrome be suspected?
Haematuria and hearing loss
42
How is Alport's syndrome diagnosed? What will this show?
Biopsy | Variable thickness of GBM
43
How is Alport's syndrome treated?
BP & proteinuria control | Renal replacement therapy
44
What is Anderson Fabry's disease?
Inborn error of glycosphingolipid metabolism (deficiency of a-galactosidase A)
45
How is Anderson Fabry's disease inherited?
X-linked
46
Which systems are affected by Anderson Fabry's disease?
Kidneys Liver Lungs Erythrocytes
47
How common is Anderson Fabry's disease?
Un
48
How does Anderson Fabry's disease present?
``` Renal failure Angiokeratomas Cardiomyopathy Valvular disease Stroke Acroparaesthesia Psychiatric problems ```
49
How is Anderson Fabry's disease diagnosed?
Plasma/leucocyte a-GAL activity Renal biopsy Skin biopsy
50
How is Anderson Fabry's disease managed?
Fabryzyme enzyme replacement | Complication management
51
How is medullary cystic kidney disease inherited?
Autosomal dominant
52
What is medullary cystic kidney disease?
Abnormal renal tubules --> renal fibrosis
53
How will medullary cystic kidneys appear on USS?
Normal/small
54
Where do the cysts arise in medullary cystic kidneys?
Corticomedullary junction | Medulla
55
Which age group is affected by medullary cystic kidneys?
>28
56
How is medullary cystic kidney disease diagnosed?
Family history | CT scan
57
How is medullary cystic kidney disease treated?
Renal transplant
58
How common is medullary sponge kidney? How is it inherited?
Uncommon | Sporadically
59
What is the pathological process occuring in medullary sponge kidney?
Dilation of collecting ducts
60
In which inherited renal condition do the cysts present in the kidney have calculi?
Medullary sponge kidney Nb - stone formation occurs in MSK which is different to the cyst calcification which can (rarely) be seen in ADPKD
61
How is medullary sponge kidney diagnosed?
Excretory urogram (showing calculi)
62
How common is renal failure in association with medullary sponge kidney?
Uncommon
63
Which inherited kidney disease patients will do better on dialysis than the vast majority of dialysis patients?
ADPKD

Year 2 (72 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions