Adult Polycystic Kidney Disease

advertisement
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)
Download
Related flashcards

Population genetics

22 cards

Mitochondrial diseases

16 cards

Population genetics

25 cards

Mitochondrial diseases

16 cards

Create Flashcards