Adult
Polycystic
Kidney
Disease
Adult Polycystic Kidney
Disease
Autosomal dominant
1-2 per 1000
Cysts present at birth, progressively
enlarge to compress renal parenchyma
Occurs at variable rate, more rapid in
males
Common cause of end-stage renal failure
in 4th or 5th decade - accounts for 3-10%
of all those commencing dialysis in the
West
Genetics
Gene PKD1 on chromosome 16 (85%)
The protein, polycystin I, is a membrane
glycoprotein involved in regulation of the
cell cycle, the mutation leads to fluid
secretion
Gene PKD2 on chromosome 4 (most of
the rest), ESRF occurs 10-15yrs later
Symptoms
Abdominal discomfort
due to pressure
Acute loin pain/colic and haematuria
due to haemorrhage into a cyst, infection or
ureteric stone
Hypertension
associated with LVH
Chronic renal failure
once below 50ml/min, GFR declines by
~5ml/min/year
Associations
Cystic change on other organs
esp. liver, spleen, pancreas
Berry aneurysms leading to SAH
prompt Ix of sudden onset or severe
headaches
Mitral valve prolapse
affects 20%
Treatments
Pain: surgical decompression
Infection: co-trimoxazole, quinolones
Calculi: percutaneous removal,
lithotripsy etc.
Hypertension: ACEi
CRF: dialysis and transplant
Hepatic cysts: rarely need surgery
Screening
Patients should have regular BP
checks
Offer genetic counselling
Family members should be offered:
screening for intracranial aneurysms
(18-40yrs)
renal screening by USS (>20yrs)
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