renal cystic disease Flashcards
what is autosomal dominant polycystic kidney disease
inherited renal disorder - continuous formation and growth of cysts in the kidneys
genetics of ADPKD
most common: mutation on PKD1 gene on chromosome 16
PKD2 mutation on chromosome 4
what is the most common extra-renal manifestation of ADPKD
hepatic cysts
first line imaging for ADPKD
USS
examination finding of ADPKD
bilateral large masses in the flanks (palpable enlarged kidneys)
name some other extrarenal complications of ADPKD
valvular disease, intracranial aneurysms
what can be prescribed to slow the progression of renal failure in ADPKD
tolvaptan - vasopressin receptor antagonist
genetics of autosomal recessive polycystic kidney disease
abnormality in PKHD1 gene on chromosome 6
how is autosomal recessive PKD usually picked up
antenatal scans with oligohydramnios
what is medullary cystic kidney disease
AD disorder characterised by tubulointerstitial sclerosis leading to end stage renal disease
where are cysts mainly found in medullary cystic kidney disease
corticomedullary junction / medulla
management of medullary cystic kidney disease
renal transplant / dialysis once reached severe CKD
what is medullary sponge kidney
cystic dilatation of the collecting tubules of the kidneys
investigation for medullary sponge kidney
excretion urography
management of medullary cystic kidneys
maintain fluid intake and reduce risk of stones
what is acquired cystic kidney disease often associated with
CKD and long term dialysis
what is used to predict the likelihood of cystic lesions being cancer
bosniak score
