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MB2: Renal > Systemic and inherited disease > Flashcards

Systemic and inherited disease Flashcards

1
Q

most common inherited kidney disease

A

ADPKD

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2
Q

85% of cases of ADPKD are PKD_ and are found on chromosome ___

A

PKD1

16

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3
Q

15% of cases of ADPKD are PKD__ and are found on chromosome___

A

PKD2

4

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4
Q

pathophysiology of ADPKD

A

massive cyst enlargement of kidneys
can arise from renal tubules
can lead to adenomas

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5
Q

renal specific features of ADPKD

A 
reduced urine concn
chronic pain
HTN
haematuria 
cyst infection 
renal failure
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6
Q

hepatic/neuro features ADPKD

A

hepatic cyst

intracranial aneurism

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7
Q

cardiac features ADPKD

A

mitral or aortic prolapse

valve disease

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8
Q

GI features ADPKD

A

diverticular disease

abdominal or inguinal hernia

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9
Q

diagnosis of ADPKD

A

USS
CT/MRI
genetic analysis and counselling

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10
Q

how many of children to parent with ADPKD will have it

A

50%

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11
Q

how is ADPKD hard to diagnose in children?

A

it can be mistaken for ARPKD

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12
Q

management of ADPKD

A 
control HTN
hydrate 
reduce proteinuria 
tolvaptan 
dialysis, transplant
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13
Q

what chromosome is ARPKD found on

A

chromosome 6

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14
Q

what is the findings of ARPKD on the kidneys

A

collecting duct involvement and kidneys, bilateral and symmetrical

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15
Q

presentation of ARPKD

A

children
palpable kidneys
HTN
recurrent UTI

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16
Q

what is alports syndrome

A

X linked disorder of type IV collagen matrix

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17
Q

presentation fo alports syndrome

A 
haematuria 
proteinuria 
sensorineural defects 
ocular defects 
leiomyotosis of oesophagus or genitals
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18
Q

diagnosis of alports syndrome

A

microscopic haematuria and hearing loss

renal biopsy - vary thickness GBM

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19
Q

treatment alports syndrome

A

no specfic tx
treat BP/proteinuria
dialysis and transplant if needed

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20
Q

what is anderson fabrys disease and what can it affect

A

x linked lysosome storage disease

kidneys, liver, lungs, erythrocytes

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21
Q

features of anderson fabrys disease

A 
renal failure 
cutaneous angiokeratomas 
cardiomyopathy 
valve disease 
stroke 
psychiatric
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22
Q

diagnosis of anderson fabrys disease

A

plasma/leukocyte a-GAL
renal biopsy shows laminal occlusion
skin biopsy

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23
Q

management of anderson fabrys disease

A

fabryzyme

manage complications

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24
Q

inheritance of medullary cystic kidney and pathophysiology

A

autosomal dominant

abnormal renal tubules, leading to fibrosis

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25
Q

diagnosis and treatment of medullary cystic kidney

A

normal size kidneys, but cyst in corticomedullary junction
FHx, CT
renal transplant

26
Q

inheritance and pathophysiology of medullary sponge kidney

A

sporadic
dilation of collecting ducts
medulla can appear as a sponge
cysts have calculi

27
Q

diagnosis of medullary sponge kidney

A

excretion urography

28
Q

what is myeloma

A

cancer causing overproduction of B cells and abnormal immunoglobulin

29
Q

where do b cells in myeloma accumulate

A

bones and soft tissue

30
Q

in who is myeloma more common?

A

> 60

men

31
Q

signs of myeloma

A 
anaemia 
hypercalcaemia 
raised ALP
renal failure 
lytic bone lesions
32
Q

symptoms of myeloma

A

bone pain, back pain
weak and fatigue
weight loss
recurrent infection

33
Q

what kind of amyloidosis may be caused by myeloma and where would it be found

A

AL amyloid in the glomerulus

34
Q

diagnosis of myeloma

A

bence jones protein and serum protein electrophoresis
bone marrow biopsy
renal biopsy
skeletal survey

35
Q

management of myeloma

A

stop nephrotoxics
manage hypercalcaemia
chemotherapy and stem cell transplant
dialysis

36
Q

what is amyloidosis

A

deposition of extracelular amyloid in tissues or organs, due to abnormal protein folding

37
Q

what is AL amyloidosis

A

production of abnormal Ig from B cells and these deposit in the body

38
Q

what parts of the body are typically affected by AL amyloidosis

A 
heart 
GI tract
skin
kidneys
nerves
39
Q

what is AA amyloidosis

A

production of acute phase protein, serum amylase A in response to inflammation

40
Q

what conditions may cause AA amyloid

A

RA, IBD, psoriasis

bronchiectasis, osteomyelitis, TB

41
Q

what organs are typically affected by AA amyloid

A

liver, spleen, kidneys, adrenal

42
Q

presentation of amyloid

A 
depends 
cardiomyopathy 
proteinuria 
peripheral/autonomic neuropathy 
hepatosplenomegaly 
malabsorption
43
Q

investigation of amyloidosis

A 
urinalysis and PCR
renal function 
free light chains 
electrophoresis 
renal biopsy on congo red 
other biopsies 
scintigraphy with amyloid
44
Q

management of AA amyloid

A

treat underlying condition

45
Q

management of AL amyloid

A

immunosuppress with steroids, stem cell transplant, chemotherapy

46
Q

diagnosis of ANCA +ve vasculitis

A 
urinalysis with blood and protin 
AKI
Anaemia
raised CRP/ESR
ANCA, anti-MPO, anti-PR3
biopsy with cresentic GN
47
Q

what type of vasculitis is anti-PR3

A

pANCA

GPA

48
Q

what type of vasculitis is anti-MPO

A

MPA

cANCA

49
Q

what are the typical organs involved in MPA

A

systemic, skin, renal, lung, GI, nerves

50
Q

what are the typical organs involved in GPA

A

lung and kidney

51
Q

what is EGPA associated with

A

asthma and eosinophilia

52
Q

management of ANCA vasculitis

A

immunosuppress with steroids, ritixumab, cyclophosphamide
plasma exchange
ventilate and dialyse

53
Q

clinical manifestation of SLE

A 
fever
weight loss 
pericarditis and pleuritis 
arthritis and arthralgia 
anaemia 
leukopaenia 
thrombocytopaenia 
thrombosis 
malar rash
alopecia
54
Q

renal manifestation of SLE

A 
proteinuria 
nephrotic syndrome 
granular casts 
micro/macro haematuria 
HTN
reduced renal function
55
Q

diagnosis of SLE

A 
CRP/ESR
ANA+ve 
anti-dsDNA
low C3/4
proteinuria ±haematuria
56
Q

differential diagnosis for SLE

A

Sjogrens
fibromyalgia
APLS

57
Q

what is lupus nephritis

A

proteinuria, determined by biopsy

58
Q

treatment of class I/II lupus nephritis

A

usually standard lupus tx

59
Q

treatment of class III/IV lupus nephritis

A

MMF, cyclophosphamide, steroids

60
Q

treatment of class V lupus nephritis

A

immunosuppression or conservative

61
Q

what drug should all lupus patients be on

A

hydroxychloroquine

62
Q

poor prognostic factors for lupus

A 
renal disease 
males 
younger age 
old age at presentation 
poor socioeconomic status 
APLS
high disease activity

MB2: Renal (11 decks)

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