Genetic diseases Flashcards
(12 cards)
What is the cause of ADPKD?
PKD 1 or 2 mutations which encode polycystin, involved in calcium regulation in the renal tubular epithelia.
Overexpressed in cyst cells.
What is the presentation of ADPKD?
Loin pain, haematuria, renal stones, high BP.
GFR falls as cysts enlarge and kidney volume increases.
How is ADPKD diagnosed?
Ultrasound. Do at age 21, and again at 30, if family history.
What are consequences of ADPKD?
ESRF (50%)
hypertension, stroke
How is ADPKD managed?
High water intake
BP meds e.g. ACEi
Tolvaptan: increases water reabsorption
What is cause of Alport’s syndrome?
Collagen 4 mutations causing accumulation in GBM, which becomes thin and then splits.
What is presentation of Alport’s syndrome?
Microscopic haematuria and proteinuria, presenting as renal failure, deafness, and eye problems.
How is Alport’s syndrome managed?
Dialysis
What is cause of Fabry’s disease?
X linked deficiency of alpha galactosidase which causes lysozomal storage disorder with accumulation of Gb3. Gb3 then accumulates in glomeruli podocytes.
What is presentation of Fabry’s disease?
Proteinuria and progressive renal failure by 30s
Can be neuro/cardiac/skin changes
How is Fabry’s disease diagnosed?
alpha galactosidase activity in leucocytes
renal biopsy shows inclusion bodies
How is Fabry’s managed?
Enzyme replacement therapy.
