systemic and inherited renal disease Flashcards
what systemic diseases can affect the kidneys?
DM - proteinuria SLE - usually nephritis Amyloidosis - congo red stain on biopsy thrombotic thrombocytopenic purpura Atherosclerotic disease leading to renal artery stenosis
how does thrombotic thrombocytopenic purpura present? what causes it?
Pentad of;
- microangiopathic haemolytic anaemia
- thrombocytopenia
- AKI
- Neuro symptoms
- fever
deficiency of or antibodies to ADAMTS13 which normally cleaves multimers of VWF. Large VMF multimers then cause platelet aggregation and fibrin deposition in small vessels
how does renal artery stenosis present?
Accelerated/malignant HTN due to RAAS upregulation
deteriorating renal function despite ACEi/ARB
Hx of atherosclerotic disease
abdominal bruit
unexplained pulmonary oedema, CHF and AKI
how is renal artery stenosis diagnosed and treated?
Duplex US
- area of stenosis
- affected kidney >1.5cm smaller than other (due to Hypoperfusion)
- CT/MRI angiography. caution with contrast
Modification of CV risk factors - statin etc
ACEi/ARB
Renal artery stenting
how does APKD present?
haematuria loin pain cyst infection renal stones HTN progressive renal failure
what are the extra renal features of APKD?
liver cysts
intracranial aneurysms
mitral valve prolapse
how is APKD diagnosed and treated?
US
- age 15-30 = 2 unilateral or bilateral cysts
- age 30-59 = 2 cysts in each kidney
- age >60 = 4 cysts in each kidney
CT/MRI more sensitive
Increased water intake 3-4L
BP control
RRT and transplant
Tolvaptan
what is alport syndrome?
mutations in COL4A5 gene (x-linked) which encodes for a component of type IV collagen found in BMs
causes haematuria, proteinuria and renal insufficiency
Can also cause sensorineural hearing loss and bulging of eye lens
what is fabrys disease?
deficiency of alpha-galactosidase enzyme causing accumulation of Gb3
causes proteinuria and progressive renal failure
can also cause neuropathy, cardiomegaly and valvular disease
