Clinical practice guideline monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD)

Jan Dudley,Matko Marlais,Tess Harris,Jiehan Chong,Lucy Moore,Oliver Cuthell,Sarah Burrows,Kay Turner,Paul Winyard,Daniel P Gale,Richard Sandford,John Sayer

doi:10.1186/s12882-019-1285-2

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is thought to affect about 1 in 1000 people in the UK. ADPKD causes a progressive decline in kidney function, with kidney failure tending to occur in middle age. Children and young people with ADPKD may not have any symptoms. However they may have high blood pressure, which may accelerate progression to later stages of chronic kidney disease.There is uncertainty and variation in how health professionals manage children and young people with confirmed or a family history of ADPKD, because of a lack of evidence. For example, health professionals may be unsure about when to test children’s blood pressure and how often to monitor it in the hospital clinic or at the GP. They may have different approaches in recommending scanning or genetic testing for ADPKD in childhood, with some recommending waiting until the young person is mature enough to make this decision his or herself.This guideline is intended to help families affected by ADPKD by making sure that:health professionals with specialist knowledge in ADPKD offer you information on inheritance and potential benefits and harms of testing for ADPKD.the decision to test and the method of testing for ADPKD in children and young people is shared between you or your family and the health professionalsblood pressure assessment is undertaken regularly in children and young people at risk of developing ADPKD

Highlights

This guideline makes recommendations for monitoring children and young people (CYP) up to 18 years of age with, or at risk of developing Autosomal Dominant Polycystic Kidney Disease (ADPKD).ADPKD is the commonest inherited renal disease with an incidence of around 1 in 1000 and accounts for 5–7% of adults commencing renal replacement therapy [2, 3]
Guideline 3 We recommend that the decision to test for ADPKD in asymptomatic children and young people (CYP) at risk of developing ADPKD, should be undertaken jointly between health professionals and parents or carers and, wherever possible, the young person. (1D)
Guideline 4 If testing is decided on, we suggest that either kidney ultrasound or genetic testing may be offered to asymptomatic children and young people at risk of ADPKD, where testing has been agreed by parents or carers and health professionals (2D)

Summary

Study design

Randomised controlled trials (RCT) Non-randomised studies if adjusted for key confounders (age, health at baseline, co-morbidities). Studies if adjusted for key confounders (age, health at baseline, co-morbidities). A Delphi panel was constituted, comprising representation from each specialist area covered by the guideline: Nephrology services (3 adult and 3 paediatric nephrologists), clinical genetics (3 representatives), paediatrics with an interest in nephrology (3 representatives), lay members (3) and general practitioners (3 invited, 2 responded). A Likert scale was used for panellists to provide their responses to statements. Consensus agreement and disagreement was defined as 80% of panellists selecting ‘agree’ or ‘disagree’ respectively. Individual responses were anonymised to panellists and the working group, with the exception of the chair. The process was iterative (participants able to change their views in subsequent rounds).

Background

Summary of clinical practice guidelines

Findings

Summary of audit measures