Professor Paul Winyard and colleagues have received a grant from Kidney Research UK to study blood pressure in children and young people at risk of ADPKD (autosomal dominant polycystic kidney disease).
ADPKD is the commonest genetic cause of chronic kidney disease but most people don't get symptoms until adulthood. It was thought that there was no need to screen children and young people (C&YP) at risk of ADPKD until they were old enough to understand and agree to testing. Also, current diagnostic ultrasound criteria only cover adults.
However, there have been recent reports of unexpected high blood pressure (hypertension) in C&YP with ADPKD, affecting up to a third by late teens. Given this, screening policy may need to change because early treatment of hypertension has the potential to reduce risk of cardiovascular events long-term. But doctors don't know whether current data overestimates hypertension - most of the evidence comes from specialist Paediatric Nephrology centres who are managing more severe and earlier diagnosed cases.
The research team will recruit 200 C&YP who have a parent or brother/sister with ADPKD and have not been tested to take part. They will be invited with their parents/guardians for a blood pressure test, kidney MRI and heart scan at their local clinics in Birmingham, Cambridge, London, Manchester, Newcastle or Nottingham. The family genetic mutation will be identified in affected relatives and checked in the C&YP. Visits will take around half a day and the results will be discussed with families, plus local services if needed. Families and the C&YPs will be asked if they wish to know whether a positive diagnosis has been made but there will be no obligation to know. However, if hypertension is found, doctors will tell the families.
There may be 28,000 UK children and young people at risk of ADPKD. This study will determine whether all of them should be screened for high blood pressure and if including MRI and genetic testing is helpful.
The PKD Charity is delighted to be a 'co-investigator' in this study; we will be assisting Prof Winyard and the team with publicity and recruitment. We are very grateful to the individuals and families who contributed to the design of the study by providing their views and experiences.
Professor Paul Winyard (Institute of Child Health/Great Ormond Street)
Dr Manish Sinha (Evelina Children's Hospital)
Professor Fiona Karet (Addenbrooke's Hospital)
Dr Richard Sandford (Addenbrooke's Hospital)
Dr Larissa Kerecuk (Birmingham's Children Hospital)
Dr Martin Christian (Nottingham Children's Hospital)
Dr Matko Marlais (Great Ormond Street)
Dr Mohan Shenoy (Manchester Children's Hospital)
Dr Yincent Tse (Great North Children's Hospital)
A dedicated website will launch in early 2020. However, if you would like your family to be considered for the study, please contact Tess Harris.