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Y2 Renal > Inherited Diseases > Flashcards

Inherited Diseases Flashcards

1
Q

what are the two types of polycystic kidney disease?

A 
autosomal dominant (ADPKD)
autosomal recessive (ARPKD)
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2
Q

what causes ADPKD?

A

mutations in either PKD1 or PKD2

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3
Q

what happens to the kidneys in ADPKD?

A

cysts form and enlarge leading to massive kidneys

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4
Q

what are the renal features of ADPKD?

A 
reduced urine concentrating ability 
pain 
hypertension 
haematuria 
infection 
renal failure
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5
Q

what are the two extra renal features of ADPKD?

A 
hepatic cysts 
intra cranial aneurysms 
heart disease
diverticula 
hernias
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6
Q

when do hepatic cysts form in ADPKD?

A

10 years after renal cysts

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7
Q

how do hepatic cysts in ADPKD present?

A

SOB
pain
ankle swelling

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8
Q

what cardiac disease is associated with ADPKD?

A

mitral/aortic valve prolapse

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9
Q

how is ADPKD diagnosed?

A

USS

CT/MRI if unclear on USS

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10
Q

how is ADPKD managed generally?

A

manage hypertension
manage proteinuria
treat cyst haemorrhage/infection

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11
Q

what drug can be used for ADPKD and how does it work?

A

tolvaptan

reduces cyst volume and progression

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12
Q

what are the options for managing renal failure in ADPKD?

A

dialysis

transplant

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13
Q

who is affected by ARPKD?

A

young children

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14
Q

what causes ARPKD?

A

mutation on the PKHD1 gene on chromosome 6

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15
Q

describe the renal involvement in ARPKD

A

bilateral and symmetrical

not very enlarged

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16
Q

where do cysts appear from in ARPKD?

A

collecting duct system

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17
Q

how does ARPKD present?

A

palpable kidneys
hypertension
recurrent UTI
slow decline in GFR

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18
Q

what is another name for Alport’s syndrome?

A

hereditary nephritis

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19
Q

how is Alport’s syndrome inherited?

A

x-linked inheritance

20
Q

what is Alport’s syndrome a disorder of?

A

the type IV collagen matrix

21
Q

what causes Alport’s syndrome?

A

mutation in the COL4A5 gene

22
Q

what is the characteristic feature of Alport’s syndrome?

A

haematuria

23
Q

what clinical feature suggests a poor prognosis in Alport’s syndrome?

A

proteinuria

24
Q

what are three extra renal features seen in Alport’s syndrome?

A

sensorineural deafness
ocular defects
leiomyomatosis of the oesophagus/genitalia

25
Q

when should you suspect Alport’s syndrome?

A

microscopic haematuria with hearing loss

26
Q

how is Alport’s syndrome diagnosed?

A

renal biopsy

27
Q

what is seen on biopsy of Alport’s syndrome?

A

variable thickness of the GBM

28
Q

how is Alport’s syndrome managed?

A

treat BP and proteinuria

dialysis/transplant if needed

29
Q

what is Anderson fabry’s disease?

A

an inborn error of glycosphingolipid metabolism

30
Q

how is Anderson fabry’s disease inherited?

A

x-linked

31
Q

what organs are affected by Anderson fabry’s disease?

A

kidneys
liver
lungs
erythrocytes

32
Q

what are the clinical features of Anderson fabry’s disease?

A 
renal failure 
angiokeratomas 
cardiomyopathy 
valvular disease 
psychiatric disturbances
33
Q

how is Anderson fabry’s disease diagnosed?

A

plasma a-GAL activity
renal biopsy
skin biopsy

34
Q

what is seen on renal biopsy in Anderson fabry’s disease?

A

concentric lamellar inclusions within lysosomes

35
Q

how is Anderson fabry’s disease managed?

A

enzyme replcement - fabryzyme

manage complications

36
Q

how is medullary cystic kidney disease inherited?

A

autosomal dominant

37
Q

what is the pathophysiology behind medullary cystic kidney disease?

A

morphologically abnormal renal tubules leading to fibrosis

38
Q

what are kidneys like in medullary cystic kidney disease?

A

normal

39
Q

where are the cysts found in medullary cystic kidney disease?

A

cortical-medullary junction or medulla

40
Q

how is medullary cystic kidney disease diagnosed?

A

family history

CT

41
Q

what’s the average age for diagnosis of medullary cystic kidney disease?

A

28

42
Q

what is the treatment of choice for medullary cystic kidney disease?

A

renal transplant

43
Q

how is medullary sponge kidney inherited?

A

sporadic

44
Q

what is seen in the kidneys in medullary sponge kidney?

A

dilation of the collecting ducts

45
Q

what are patients with medullary sponge kidney predisposed to?

A

calculi

46
Q

how is medullary sponge kidney diagnosed?

A

excretion urography

Y2 Renal (29 decks)

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