Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: A United Kingdom cohort for a DNA bank

Heather J. Lambert, Aisling Stewart, Ambrose M. Gullett, Heather J. Cordell, Sue Malcolm, Sally A. Feather, Judith A. Goodship, Timothy H J Goodship, Adrian S. Woolf

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Background and objectives Primary vesicoureteric reflux (VUR) can coexist with reflux nephropathy (RN) and impaired renal function. VUR appears to be an inherited condition and is reported in approximately one third of siblings of index cases. The objective was to establish a DNA collection and clinical database from U.K. families containing affected sibling pairs for future VUR genetics studies. The cohort's clinical characteristics have been described. Design, setting, participants, & measurements Most patients were identified from tertiary pediatric nephrology centers; each family had an index case with cystography-proven primary, nonsyndromic VUR. Affected siblings had radiologically proven VUR and/or radiographically proven RN.Results One hundred eighty-nine index cases identified families with an additional 218 affected siblings. More than 90% were 1 year, estimated GFR (eGFR) was calculated. Five had eGFR 15 to 59 and 48 had eGFR 60 to 89 ml/min per 1.73 m2. Values were lower in bilateral RN patients than in those with either unilateral or absent RN.Conclusions The large DNA collection from families with VUR and associated RN constitutes a resource for researchers exploring the most likely complex, genetic components predisposing to VUR and RN. © 2011 by the American Society of Nephrology.
    Original languageEnglish
    Pages (from-to)760-766
    Number of pages6
    JournalClinical Journal of the American Society of Nephrology
    Volume6
    Issue number4
    DOIs
    Publication statusPublished - 1 Apr 2011

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