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  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  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  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%  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  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)  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)