Adult Polycystic Kidney Disease

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Adult Polycystic Kidney Disease
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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

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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

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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

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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

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Treatments

• Pain surgical decompression
• Infection co-trimoxazole, quinolones
• Calculi percutaneous removal, lithotripsy etc.
• Hypertension ACEi
• CRF dialysis and transplant
• Hepatic cysts rarely need surgery

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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 (gt20yrs)