Most frequent life-threatening hereditary kidney disease

Aetiology

• Mutations on PKD gene 1 in 85% of cases - located on chromosome 16
• PKD2 mutations seen in 15% of cases - located on chromosome 4
• Mutation type has prognostic indications - PKD1 patients develop end stage kidney failure at an earlier stage

Pathophysiology

• Large cysts form over time because of abnormal proliferation of tubular cells and an increase in cellular secretion with changes in the extracellular matrix
• Cysts often lined by simple epithelium
• Often secondary changes - haemorrhage, infarction, rupture

Clinical features

Renal

• Reduced urine concentration ability
• Chronic pain
• Hypertension - common, early (mean age 31 years)
• Haematuria - cyst rupture, cystitis, stones
• Cyst infection
• Renal failure

Extra renal

Hepatic cysts

• Most common extra renal manifestation