Autosomal Dominant Polycystic Kidney Disease (ADPKD)

🧭 When to suspect

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, affecting roughly 1 in 1,000 people and around 70,000 in the UK. It is a multisystem disorder caused by mutations in PKD1 (the majority, ~78%, with kidney failure typically by the mid-50s) or PKD2 (~15%, milder, kidney failure typically in the 70s). Inheritance is autosomal dominant – each child of an affected parent has a 50% chance of inheriting it – though up to a tenth of cases arise from a de novo mutation with no family history. About half of patients reach end-stage kidney disease by age 60.

Suspect ADPKD in a patient with hypertension diagnosed under 40, loin, flank or abdominal pain, visible or non-visible haematuria, recurrent urinary tract infections, or palpable kidneys. A family history of ADPKD, renal failure of unknown cause, or intracranial aneurysm / subarachnoid haemorrhage markedly raises the pre-test probability. The two clinical priorities are to confirm the diagnosis and stratify risk, and to recognise the small number of life-threatening complications – chiefly aneurysmal rupture and cyst infection.

The first-line and definitive investigation is a renal ultrasound, interpreted against age-specific cyst counts in those with a positive family history (the unified, or Pei, criteria):

Ultrasound is less reliable for exclusion under 30 (small cysts are missed); where the result is equivocal or the stakes are high – living kidney donation, reproductive decisions, drug eligibility – specialist imaging or genetic testing is used to clarify.

Source: NICE NG203 · UK Kidney Association