ADPKD Flashcards
what is ADPKD?
autosomal dominant polycystic
2 types: type 1 + type 2
what is the pathology of ADPKD?
large cysts arising from all parts of nephron
progressive decline in renal function
70% ESRF by 70yo
what is the prevalence of ADPKD?
1 in 1000
caucasians
normally 40-60yo
describe ADPKD type 1 (% of cases, chromosome)
85% of cases
chromosome 16
presents with renal failure earlier
describe ADPKD type 2 (% of cases, chromosome)
15% of cases
chromosome 4
what is the presentation of ADPKD?
MISSHAPES
Mass- abdo mass + flank pain
Infected cyst
Stones
SBP high
Haematuria or haemorrhage into cyst
Aneursyms- berry -> SAH
Polyuria + nocturia
Extra-renal cysts- liver
Systolic murmur- mitral valve prolapse
what screening investigation to you use for ADPKD?
abdominal ultrasound
what is the ultrasound diagnostic criteria in patients with positive family history for ADPKD?
2 cysts (uni or bilateral) if <30yo
2 cysts in both kidneys if 30-59yo
4 cysts in both kidneys if >60yo
when would you start management for patients with ADPKD?
to slow progression of cyst development + renal insufficiency if:
- they have CKD 2 or 3 at start of treatment
- evidence of rapidly progressing disease
- company provides it w discount greed in patient access scheme
what is the management for ADPKD?
general:
increase water intake, decrease Na + caffeine
monitor UE + BP
genetic counselling
MRA screen for berry anuerysms
medical:
HTN aim <130/80- ACEi
rx infections
tolvaptan (vasopressin receptor 2 antagonist)
surgical:
pain may improve w laparoscopic cyst removal or nephrectomy
ESRF in 70& by 70yrs- dialysis or transplant