[Inherited Kidney Disorders] Flashcards
Autosomal dominant polycystic kidney disease (APKD)
PKD2
T
haemorrhage into cysts
enlargened
abdominal
liver cysts
intra-cranial cysts leading to sub-arachnoid haemorrhage
mitral valve prolapse
<80
aggressive BP control
Laparoscopic cyst removal
nephrectomy
silent clinically for a long time
USS screening
> 3 cysts (uni/bilateral)
> 2 cysts BILATERALLY
> 4 cysts BILATERALLY
MRI cranial angiography
infancy
autosomal recessive
autosomal dominant
recessive (20% ESRF in children)
dominant (rare!)
medulla
cysts restricted to renal medulla
decreased ability to concentrate urine.
neuro-oculo-cutaneous symptoms
Von Hippel Lindau syndrome
Tuberous Sclerosis
Von Hippel Lindau syndrome
tumour supressor gene
harmatomas
COL4A5 gene
alpha-5 chain in type 4 collagen
x-linked
Goodpastures
GBM splitting
haematuria
proteinuria
renal insufficiency
lysosomal storage disease due to enzyme deficiency
accumulation of glycophingolipids at multiple sites
Rhubarb, spinach, tea
oxalate renal stones
calcinosis
liver transplant
cysteine renal stones