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renal - mine > inherited renal diseases > Flashcards

inherited renal diseases Flashcards

1
Q

what is the most common inherited renal disease

A

Autosomal Dominant Polycystic kidney disease

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2
Q

what causes Autosomal Dominant Polycystic kidney disease

A

mutation on nephrin

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3
Q

what type of mutation causes Autosomal Dominant Polycystic kidney disease

A

PKD1 (85%)

PKD2

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4
Q

when do the symptoms of Autosomal Dominant Polycystic kidney disease occur

A

adulthood

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5
Q

what are the symptoms of Autosomal Dominant Polycystic kidney disease

A 
many renal cysts = enlarged kidney 
liver cysts = pain, ankle swelling
chronic pain
hypertension
haematuria 
renal failure
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6
Q

what are the investigations of Autosomal Dominant Polycystic kidney disease

A

US

CT/MRI if US is unclear

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7
Q

what would you expect to see on US of Autosomal Dominant Polycystic kidney disease

A

multiple bilateral cysts

renal enlargement

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8
Q

what is the treatment of Autosomal Dominant Polycystic kidney disease

A

control BP
reduce cysts
dialysis/transplant if kidneys fail

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9
Q

what medication is used to reduce cyst volume

A

tolvaptan

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10
Q

who is affected by

Autosomal Recessive Polycystic Kidney Disease

A

children

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11
Q

what causes

Autosomal Recessive Polycystic Kidney Disease

A

PKDH1 located on chromosome 6

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12
Q

what are the symptoms of

Autosomal Recessive Polycystic Kidney Disease

A 
bilateral and symmetrical renal involvement 
renal cysts within the collecting duct 
liver cysts 
hypertension
recurrent UTIs
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13
Q

what are the investigations of

Autosomal Recessive Polycystic Kidney Disease

A

US
CT/MRI if US is unclear
eGFR = slwo decline

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14
Q

what would you expect to see on US of Autosomal Recessive Polycystic Kidney Disease

A

multiple bilateral cysts

renal enlargement

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15
Q

what is alports syndrome also known as

A

hereditary nephritis

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16
Q

what is the cause of alports syndrome

A

disorder of type IV collagen matrix du eto COL4A5 mutation

17
Q

how is alports syndrome inherited

A

X-linked

18
Q

what are the symptoms of alports syndrome

A

haematuria
sensorineural deafness
ocular defects = anterior lenticonus
proteinuria = late stage

19
Q

what is the investigation of alports syndrome, what would you expect to find

A

renal biopsy = variable thickness of GBM

20
Q

what is the treatment of alports syndrome

A

no specific treatment
address BP and Proteinuria = ACEI/ARB
dialysis/transplant

21
Q

what is Anderson Fabrys Disease

A

rare genetic disease causing the build up of fat in the body

storage disease

22
Q

how is Anderson Fabrys Disease inherited

A

X-linked

23
Q

what is the mutation in Anderson Fabrys Disease

A

mutation in the glycosphingolipid metabolism

24
Q

what are the symptoms of Anderson Fabrys Disease

A

renal failure
cutaneous angiokeratoma
cardiomyopathy
valve disease

25
Q

what are the investigations of Anderson Fabrys Disease

A

a-GAL activity
renal biopsy
skin biopsy

26
Q

what is the treatment of Anderson Fabrys Disease

A

enzyme replacment = fabryzyme

27
Q

what is medullar cystic kidney disease

A

abnormal renal tubules leading to fibrosis

28
Q

how is Medullary Cystic Kidney Disease inherited

A

autosomal dominant

29
Q

what are the symptoms of Medullary Cystic Kidney Disease

A

normal/small kidneys

cysts in the corticomedullary junction or medulla

30
Q

what is the investigation of Medullary Cystic Kidney Disease

A

CT

31
Q

what is the treatment of Medullary Cystic Kidney Disease

A

transplant

32
Q

what is medullary spongey kidney

A

dilation of the collecting ducts

33
Q

what are the symptoms of medullary spongey kidney

A

cysts with calculi

medullary area looks like a sponge = severe cases

34
Q

what is the investigation of medullary spongey kidney, what would you expect to find

A

excretion urography = calculi

renal - mine (8 decks)

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