Renal

Autosomal Dominant Polycystic Ovarian Syndrome

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Pathology

Multiple fluid filled cysts develop within kidneys.

Aetiology

Mutation in PKD-1(chromosome 16)  or PKD-2 (chromosome 4) lead to a defect in synthesis of polycystin-1 or polycystin-2 .

Signs

May have ballotable large kidneys or an enlarged cystic liver

Symptoms

Haematuria, dysuria, loin pain, polyuria, nocturia, oliguria

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

Prognosis

A significant number never need renal replacement therapy.
Those requiring dialysis generally have a better prognosis than most dialysis patients. 
Bleeding into cysts
Infected cysts
Liver and pancreatic cysts
Hypertension
Intra cerebral aneurysms leading to subarachnoid haemorrhage 
Cardiac valve disorders: Mitral valve prolapse and aortic regurgitation Diverticular disease

Key Facts

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Key References

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