Pathology: Multiplefluid filled cysts develop within kidneys.
Aetiology: Mutationin PKD-1(chromosome 16) or PKD-2(chromosome 4) lead to a defect in synthesis of polycystin-1 or polycystin-2
Symptoms: Haematuria,dysuria, loin pain, polyuria, nocturia, oliguria
Signs: Mayhave ballotable large kidneys or an enlarged cystic liver
Investigations: Bloods: FBC, U&E, Clotting
Imaging: Renal ultrasound – confirms diagnosis
Treatment: Patient Education: Genetic counselling,lifestyle changes
Medical: ACE inhibiters, treatment of CKD complications
Surgical: Transplantation
Complications: Bleedinginto cysts
Infectedcysts
Liver andpancreatic cysts
Hypertension
Intracerebral aneurysms leading to subarachnoid haemorrhage
Cardiacvalve disorders: Mitral valve prolapse and aortic regurgitation Diverticulardisease
Prognosis: Asignificant number never need renal replacement therapy.
Those requiringdialysis generally have a better prognosis than most dialysis patients.
