What is VUR and what are its consequences?
VUR is the retrograde passage of urine from the bladder into the upper urinary tract. The primary form is due to ectopic, lateral insertion of the ureter into the bladder via a shortened tunnel through the detrusor muscle. This leads to failure of valve-like closure during bladder filling and micturition. VUR affects young children and in 80% resolves by the age of ten. About a quarter of affected children have an associated nephropathy (reflux nephropathy also known as chronic pyelonephritis). In most this is secondary to scarring associated with ascending bacterial infection but in some the nephropathy is part of the developmental abnormality. Depending on the severity of the nephropathy, proteinuria, hypertension and renal failure may ensue.
The Familial aspects of VUR
VUR runs in families; up to 50% of siblings and offspring of affected individuals have the condition. About 1% of the population has VUR and this makes it one of the commonest inherited conditions. Despite this, very little is known about the underlying genetic abnormalities. We have identified a locus on chromosome 1 but have also shown that the condition is genetically heterogeneous (Feather et al, Am.J.Hum.Genet. 2000;66:1420-1425). The availability of such information would make feasible genetic screening to replace the invasive radiological investigations currently undertaken.
The UK VUR DNA Collection
With funding from the Wellcome Trust's Functional Genomics Initiative we are undertaking a collection of both DNA and immortalised lymphocytes from sibling pairs in the UK affected by VUR. It is our aim to collect samples from 300 families. Two research coordinators, based in Newcastle (Aisling Stewart) and London (Ambrose Gullett) have been appointed to collect the samples and record the necessary clinical details. The DNA samples are being stored in the regional NHS diagnostic laboratories (Newcastle and London) according to rigorous national guidelines. Multi-centre Research Ethics Committee (MREC) approval has been given for the study. The collection will be freely available to the wider research community (terms and conditions).
Kidney Research UK is acting as a facilitator in this project and will be working with the primary research partners, the British Association for Paediatric Nephrology (BAPN) and other agreed collaborators to collectively form a VUR development group which will assist with the establishment and maintenance of the DNA collection. As the project progresses the NKRF and the VUR development group will be responsible for promoting awareness of this important resource among healthcare specialists and patients using a range of media activities.
Site updated 27th April 2006
Current Recruitment