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Autosomal dominant polycystic kidney disease in children

BMJ 2016; 353 doi: (Published 06 June 2016) Cite this as: BMJ 2016;353:i2957

Chinese translation


  1. Satyamaanasa Polubothu, academic clinical fellow1,
  2. Amanda Richardson, paediatric nephrology specialist trainee2,
  3. Larissa Kerecuk, consultant paediatric nephrologist3,
  4. Manish D Sinha, consultant paediatric nephrologist2
  1. 1Great Ormond Street Hospital, London WC1N 3JH, UK
  2. 2Department of Paediatric Nephrology, Evelina London Children’s Hospital, London, UK
  3. 3Department of Paediatric Nephrology, Birmingham Children’s Hospital, Birmingham, UK
  1. Correspondence to: S Polubothu mpolubothu{at}

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Autosomal dominant polycystic kidney disease (ADPKD) was previously known as “adult PKD” because most cases come to medical attention during adulthood. However, clinically important morbidity such as hypertension and cardiovascular disease occurs much earlier. Screening children could detect those affected, and randomised controlled trials show that early intervention reduces disease progression. Despite this, very few children from families with the condition are currently assessed in the United Kingdom.

ADPKD is the most common inherited kidney disease and accounts for 10% of people under 65 years on renal replacement therapy in the UK.1 Often asymptomatic during the first three decades of life, the condition typically presents with abdominal pain or an incidental finding of hypertension. Renal disease is characterised by gradual bilateral cystic dilation of the renal tubules, with eventual compression of normal renal parenchyma and kidney enlargement. After patients develop hypertension, the disease has an accelerated trajectory, with a …

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