Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

2 Renal > Inherited Kidney Disorders > Flashcards

Inherited Kidney Disorders Flashcards

1
Q

how is polycystic disease most commonly inherited?

A

autosomal dominant

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

most common hereditary severe kidney disease

A

autosomal odminant polycystic kidney disease

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

most common genetic mutation in polycystic kidney disease and where it is?

A

PDK1 gene on chromosome 16

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

PDL2 mutation is present on what chromosome?

A

4

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

which genetic mutation is most common in PKD?

A

PKD 1

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

PKD2 patients develop end stage kidney disease quicker than PKD1 patients: T or F

A

F, PKD1 do

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

cycts arise from what structures of the kidney in PKD?

A

renal tubules

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

do cysts affect the overall kidney size?

A

yes, kidneys get much bigger

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

why do patients experience pain in PKD?

A

stretching of the renal capsule due to hypertrophy

can get infection of the cyst

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

why can you get haematuria in PKD?

A

cyst rupture
cystitis
stones

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

what does the urine of someone with ADPKD look like and why?

A

very dilute, cannot concentrate their urine

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

how is cyst infection treated?

A

need to inject Abs straight into the cyst

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

general Tx of ADPKD

A 
control risk factors - ht etc
hydrate patients
tolvaptan to decrease cyst vol
dialysis
renal transplant
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

hypertension is found at a very young age in ADPDK patients T or F

A

T

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

why do you get oedema symptoms in ADPKD?

A

cysts can compress:
renal veins
IVC

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

which tends to present first:
liver cysts
renal cysts

A

renal (usually about 10yrs before liver)

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

liver function is massively altered in ADPKD T or F

A

F, usually stays the same

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

patients with ADPKD who have a family history of what condition should be screened as they are at risk?

A

intracranial aneurysms

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

cardiac effects of ADPKD?

A

valvular disease - mitral/aortic valve prolapse

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

incidence of hernias is increased in ADPKD T or F

A

T

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

how is ADPKD diagnosed radiologically?

A

USS

CT/MRI if USS is unclear

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

what would you be looking for on imaging of ADPKD?

A

renal enlargement

bilateral cysts

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

are cysts usually bilateral or unilateral in autosomal recessive PKD?

A

bilateral

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

how would you investigate ADPKD using genetics?

A

take a family history

linkage and mutation analysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

you can only get ADPKD beyond 1yr of age T or F

A

F, can get it in utero

26
Q

the offspring of an infected individual with ADPKD is _% likely to get the disease

A

50%

27
Q

what drug should be given to reduce cyst volume?

A

tolvaptan

28
Q

what management option is best for decreasing proteinuria?

A

hypertension control

29
Q

who gets autosomal recessive kidney disease?

A

young children

30
Q

liver lesions are associated with what type of inheritance?

A

autosomal recessive

31
Q

are cysts bilateral or unilateral in ADPKD?

A

can be either

32
Q

what gene is involved in ARPKD and what chromosome is it on?

A

PKDH1 on chromosome 6

33
Q

where in the kidney are cysts seen in ARPKD?

A

appearing from the collecting ducts

34
Q

the kidneys are palpable in ARPKD T or F

A

T

35
Q

GFR rapidly decreases in ARPKD T or F

A

F, it is a very slow decline

36
Q

which PKD gets recurrent UTIs?

A

autosomal recessive

37
Q

how is alports syndrome inherited?

A

x linked

38
Q

what actually is alports syndrome?

A

an inherited nephritis

39
Q

mutation is in what gene in alports syndrome?

A

COL4A5 gene

40
Q

characteristic feature of alports?

A

haematuria

41
Q

what kind of deafness is associated with alports?

A

sensorineural deafness

42
Q

patient presents with haematuria + hearing loss….

A

alports syndrome

43
Q

findings on renal biopsy of a patient with alports?

A

variable thickness glomerular BM

splitting of lamina densa

44
Q

Tx of alports?

A

treat BP for proteinuria
dialysis
transplantation

45
Q

anderson fabrys disease affects what organs?

A

kidneys
liver
lungs

46
Q

inheritance of anderson fabrys disease?

A

x linked

47
Q

anderson fabrys disease is a deficiency of what enzyme

A

alpha galactosidase a

48
Q

how is anderson fabrys disease diagnosed?

A

renal and skin biopsy

49
Q

clinical features of anderson fabrys disease?

A 
renal failure
cardiomyopathy + valvular disease
angiokeratomas
stroke
confusion
50
Q

skin manifestation of anerson fabrys disease?

A

angiokeratoma (hyperkeratosis causing red/blue marks)

51
Q

how is anderson fabrys treated?

A

enzyme replacement

manage complications

52
Q

how is medullary cystic kidney disease inherited?

A

AD

53
Q

pathophysiology of medullary cystic kidney?

A

abnormal renal tubules leading to fibrosis

54
Q

where are the cysts located in MCK?

A

corticomedullary junction

55
Q

how is MCK diagnosed?

A

FHx

CT scan

56
Q

what age does MCK typically present?

A

around mid 20s

57
Q

Tx for MCK?

A

renal transplant

58
Q

inherited disease causing dilation of collecting ducts?

A

medullary sponge kidney

59
Q

cysts contain calculi in medullary sponge kidney T or F

A

T

60
Q

how is medulalry sponge kidney diagnosed?

A

excretion urography

2 Renal (34 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions