Genetic / Congenital Renal Disease Flashcards
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
