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MB2: Renal > Systemic and inherited disease > Flashcards

Systemic and inherited disease Flashcards

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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
diagnosis and treatment of medullary cystic kidney
normal size kidneys, but cyst in corticomedullary junction FHx, CT renal transplant
26
inheritance and pathophysiology of medullary sponge kidney
sporadic dilation of collecting ducts medulla can appear as a sponge cysts have calculi
27
diagnosis of medullary sponge kidney
excretion urography
28
what is myeloma
cancer causing overproduction of B cells and abnormal immunoglobulin
29
where do b cells in myeloma accumulate
bones and soft tissue
30
in who is myeloma more common?
>60 | men
31
signs of myeloma
``` anaemia hypercalcaemia raised ALP renal failure lytic bone lesions ```
32
symptoms of myeloma
bone pain, back pain weak and fatigue weight loss recurrent infection
33
what kind of amyloidosis may be caused by myeloma and where would it be found
AL amyloid in the glomerulus
34
diagnosis of myeloma
bence jones protein and serum protein electrophoresis bone marrow biopsy renal biopsy skeletal survey
35
management of myeloma
stop nephrotoxics manage hypercalcaemia chemotherapy and stem cell transplant dialysis
36
what is amyloidosis
deposition of extracelular amyloid in tissues or organs, due to abnormal protein folding
37
what is AL amyloidosis
production of abnormal Ig from B cells and these deposit in the body
38
what parts of the body are typically affected by AL amyloidosis
``` heart GI tract skin kidneys nerves ```
39
what is AA amyloidosis
production of acute phase protein, serum amylase A in response to inflammation
40
what conditions may cause AA amyloid
RA, IBD, psoriasis | bronchiectasis, osteomyelitis, TB
41
what organs are typically affected by AA amyloid
liver, spleen, kidneys, adrenal
42
presentation of amyloid
``` depends cardiomyopathy proteinuria peripheral/autonomic neuropathy hepatosplenomegaly malabsorption ```
43
investigation of amyloidosis
``` urinalysis and PCR renal function free light chains electrophoresis renal biopsy on congo red other biopsies scintigraphy with amyloid ```
44
management of AA amyloid
treat underlying condition
45
management of AL amyloid
immunosuppress with steroids, stem cell transplant, chemotherapy
46
diagnosis of ANCA +ve vasculitis
``` urinalysis with blood and protin AKI Anaemia raised CRP/ESR ANCA, anti-MPO, anti-PR3 biopsy with cresentic GN ```
47
what type of vasculitis is anti-PR3
pANCA | GPA
48
what type of vasculitis is anti-MPO
MPA | cANCA
49
what are the typical organs involved in MPA
systemic, skin, renal, lung, GI, nerves
50
what are the typical organs involved in GPA
lung and kidney
51
what is EGPA associated with
asthma and eosinophilia
52
management of ANCA vasculitis
immunosuppress with steroids, ritixumab, cyclophosphamide plasma exchange ventilate and dialyse
53
clinical manifestation of SLE
``` fever weight loss pericarditis and pleuritis arthritis and arthralgia anaemia leukopaenia thrombocytopaenia thrombosis malar rash alopecia ```
54
renal manifestation of SLE
``` proteinuria nephrotic syndrome granular casts micro/macro haematuria HTN reduced renal function ```
55
diagnosis of SLE
``` CRP/ESR ANA+ve anti-dsDNA low C3/4 proteinuria ±haematuria ```
56
differential diagnosis for SLE
Sjogrens fibromyalgia APLS
57
what is lupus nephritis
proteinuria, determined by biopsy
58
treatment of class I/II lupus nephritis
usually standard lupus tx
59
treatment of class III/IV lupus nephritis
MMF, cyclophosphamide, steroids
60
treatment of class V lupus nephritis
immunosuppression or conservative
61
what drug should all lupus patients be on
hydroxychloroquine
62
poor prognostic factors for lupus
``` renal disease males younger age old age at presentation poor socioeconomic status APLS high disease activity ```

MB2: Renal (11 decks)

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