Genetic / Congenital Renal Disease Flashcards
(11 cards)
what genetic syndrome can cause haematuria, sensorineural deafness and anterior lens dislocations
Alport syndrome
what genetic syndrome cause bilateral ESRF from birth, and in 50% of patients also causes liver fibrosis
autosomal recessive polycystic kidneys disease
what genetic syndrome affects the kidneys and also causes angiokeratomas on the skin at the umbilicus
anderson-fabrys disease
what condition often presents in the 20s, has tubule fibrosis and normal / small kidneys
medullary cystic kidney
in what condition are the kidneys fused at either pole
horseshoe kidney
what X linked condition is due to an error in glycosphingolipid metabolism and treatment involves replacing fabryzyme enzyme
anderson-fabrys disease
what X linked condition affects IV collagen due to a COL4A5 mutation and shows variable thickness GBM on biopsy
Alport syndrome
how does ADPKD commonly initially present
early HTN, haematuria
investigations for ADPKD
US then CT/MRI
what age are people who present with ADPKD
young/middle adult
management of ADPKD
control HTN, tolvaptan +- RRT
