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Lookup NU author(s): Aisling Stewart, Professor Heather Cordell, Professor Judith Goodship, Professor Tim Goodship
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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 < 20 years at the study's end. Blood was collected and leukocyte DNA extracted from all 407 patients and from 189 mothers and 183 fathers. Clinical presentation was established in 122; 92 had urinary tract infections and 16 had abnormal antenatal renal scans. RN was radiologically proven in 223 patients. Four patients had been transplanted; none were on dialysis. In 174 others aged > 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 m(2). 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. Clin J Am Soc Nephrol 6: 760-766, 2011. doi: 10.2215/CJN.04580510
Author(s): Lambert HJ, Stewart A, Gullett AM, Cordell HJ, Malcolm S, Feather SA, Goodship JA, Goodship THJ, Woolf AS, UK VUR Study Grp
Publication type: Article
Publication status: Published
Journal: Clinical Journal of the American Society of Nephrology
Year: 2011
Volume: 6
Issue: 4
Pages: 760-766
Print publication date: 01/03/2011
ISSN (print): 1555-9041
ISSN (electronic): 1555-905X
Publisher: American Society of Nephrology
URL: http://dx.doi.org/10.2215/CJN.04580510
DOI: 10.2215/CJN.04580510
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