Systemic and inherited disease Flashcards
most common inherited kidney disease
ADPKD
85% of cases of ADPKD are PKD_ and are found on chromosome ___
PKD1
16
15% of cases of ADPKD are PKD__ and are found on chromosome___
PKD2
4
pathophysiology of ADPKD
massive cyst enlargement of kidneys
can arise from renal tubules
can lead to adenomas
renal specific features of ADPKD
reduced urine concn chronic pain HTN haematuria cyst infection renal failure
hepatic/neuro features ADPKD
hepatic cyst
intracranial aneurism
cardiac features ADPKD
mitral or aortic prolapse
valve disease
GI features ADPKD
diverticular disease
abdominal or inguinal hernia
diagnosis of ADPKD
USS
CT/MRI
genetic analysis and counselling
how many of children to parent with ADPKD will have it
50%
how is ADPKD hard to diagnose in children?
it can be mistaken for ARPKD
management of ADPKD
control HTN hydrate reduce proteinuria tolvaptan dialysis, transplant
what chromosome is ARPKD found on
chromosome 6
what is the findings of ARPKD on the kidneys
collecting duct involvement and kidneys, bilateral and symmetrical
presentation of ARPKD
children
palpable kidneys
HTN
recurrent UTI
what is alports syndrome
X linked disorder of type IV collagen matrix
presentation fo alports syndrome
haematuria proteinuria sensorineural defects ocular defects leiomyotosis of oesophagus or genitals
diagnosis of alports syndrome
microscopic haematuria and hearing loss
renal biopsy - vary thickness GBM
treatment alports syndrome
no specfic tx
treat BP/proteinuria
dialysis and transplant if needed
what is anderson fabrys disease and what can it affect
x linked lysosome storage disease
kidneys, liver, lungs, erythrocytes
features of anderson fabrys disease
renal failure cutaneous angiokeratomas cardiomyopathy valve disease stroke psychiatric
diagnosis of anderson fabrys disease
plasma/leukocyte a-GAL
renal biopsy shows laminal occlusion
skin biopsy
management of anderson fabrys disease
fabryzyme
manage complications
inheritance of medullary cystic kidney and pathophysiology
autosomal dominant
abnormal renal tubules, leading to fibrosis
diagnosis and treatment of medullary cystic kidney
normal size kidneys, but cyst in corticomedullary junction
FHx, CT
renal transplant
inheritance and pathophysiology of medullary sponge kidney
sporadic
dilation of collecting ducts
medulla can appear as a sponge
cysts have calculi
diagnosis of medullary sponge kidney
excretion urography
what is myeloma
cancer causing overproduction of B cells and abnormal immunoglobulin
where do b cells in myeloma accumulate
bones and soft tissue
in who is myeloma more common?
> 60
men
signs of myeloma
anaemia hypercalcaemia raised ALP renal failure lytic bone lesions
symptoms of myeloma
bone pain, back pain
weak and fatigue
weight loss
recurrent infection
what kind of amyloidosis may be caused by myeloma and where would it be found
AL amyloid in the glomerulus
diagnosis of myeloma
bence jones protein and serum protein electrophoresis
bone marrow biopsy
renal biopsy
skeletal survey
management of myeloma
stop nephrotoxics
manage hypercalcaemia
chemotherapy and stem cell transplant
dialysis
what is amyloidosis
deposition of extracelular amyloid in tissues or organs, due to abnormal protein folding
what is AL amyloidosis
production of abnormal Ig from B cells and these deposit in the body
what parts of the body are typically affected by AL amyloidosis
heart GI tract skin kidneys nerves
what is AA amyloidosis
production of acute phase protein, serum amylase A in response to inflammation
what conditions may cause AA amyloid
RA, IBD, psoriasis
bronchiectasis, osteomyelitis, TB
what organs are typically affected by AA amyloid
liver, spleen, kidneys, adrenal
presentation of amyloid
depends cardiomyopathy proteinuria peripheral/autonomic neuropathy hepatosplenomegaly malabsorption
investigation of amyloidosis
urinalysis and PCR renal function free light chains electrophoresis renal biopsy on congo red other biopsies scintigraphy with amyloid
management of AA amyloid
treat underlying condition
management of AL amyloid
immunosuppress with steroids, stem cell transplant, chemotherapy
diagnosis of ANCA +ve vasculitis
urinalysis with blood and protin AKI Anaemia raised CRP/ESR ANCA, anti-MPO, anti-PR3 biopsy with cresentic GN
what type of vasculitis is anti-PR3
pANCA
GPA
what type of vasculitis is anti-MPO
MPA
cANCA
what are the typical organs involved in MPA
systemic, skin, renal, lung, GI, nerves
what are the typical organs involved in GPA
lung and kidney
what is EGPA associated with
asthma and eosinophilia
management of ANCA vasculitis
immunosuppress with steroids, ritixumab, cyclophosphamide
plasma exchange
ventilate and dialyse
clinical manifestation of SLE
fever weight loss pericarditis and pleuritis arthritis and arthralgia anaemia leukopaenia thrombocytopaenia thrombosis malar rash alopecia
renal manifestation of SLE
proteinuria nephrotic syndrome granular casts micro/macro haematuria HTN reduced renal function
diagnosis of SLE
CRP/ESR ANA+ve anti-dsDNA low C3/4 proteinuria ±haematuria
differential diagnosis for SLE
Sjogrens
fibromyalgia
APLS
what is lupus nephritis
proteinuria, determined by biopsy
treatment of class I/II lupus nephritis
usually standard lupus tx
treatment of class III/IV lupus nephritis
MMF, cyclophosphamide, steroids
treatment of class V lupus nephritis
immunosuppression or conservative
what drug should all lupus patients be on
hydroxychloroquine
poor prognostic factors for lupus
renal disease males younger age old age at presentation poor socioeconomic status APLS high disease activity
