Journal article

DNA copy number variants: A potentially useful predictor of early onset renal failure in boys with posterior urethral valves

A Faure, A Bouty, G Caruana, L Williams, T Burgess, MN Wong, PA James, M O'Brien, A Walker, JF Bertram, Y Heloury

JOURNAL OF PEDIATRIC UROLOGY | ELSEVIER SCI LTD | Published : 2016

Abstract

INTRODUCTION: Posterior urethral valves (PUV) are among the most common urological causes of chronic kidney disease (CKD) in childhood. Recently, genomic imbalances have been cited as potential risk factors for altered kidney function and have been associated with CKD. The phenotypic effects of a copy number variant (CNV) in boys with PUV are unknown. Here, it was hypothesised that the progression to early renal failure in PUV patients may be influenced by genetic aberrations. OBJECTIVE: To assess the relationship between CNVs and renal outcomes. PATIENTS AND METHODS: Between September 2012 and July 2015, 45 children with PUV were recruited to evaluate the presence of CNVs in their DNA. The ..

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