caa a22 4500 397574924 CHVBK 20180308164852.0 cr unu---uuuuu 161202e199609 xx s 000 0 eng 10.1093/hmg/5.Supplement_1.1425 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.Supplement_1.1425 Unravelling the genetics of vesicoureteric reflux: a common familial disorder [Elektronische Daten] [Michael R. Eccles, Ross R. Bailey, George D. Abbott, Michael J. Sullivan] Primary vesicoureteric reflux (VUR) is one of the more common genetic disorders. Little is yet known about the genetics of this potentially manageable childhood condition, which is characterised by regurgitation of urine from the bladder to the kidney. The VUR phenotype is associated with shortness of the submucosal segment of the ureter due to congenital lateral ectopia of the ureteric orifice. VUR is found in 30-50% of infants and young children with a urinary tract infection. A serious concern in families with an affected patient is that approximately one half of siblings or offspring will be affected, but up to a half of these affected siblings and offspring may be asymptomatic in childhood. If left untreated, these patients may present later in life with proteinuria, hypertension or renal failure. VUR is the commonest cause of end-stage renal failure in children, and an important cause in adults. As the kidney damage resulting from severe VUR is preventable, early detection is desirable. The techniques for clinical diagnosis are invasive and costly, reinforcing the importance of identification of a gene for VUR to facilitate genetic screening. Although family studies suggest a major dominant gene, the inheritance pattern is still a matter of debate. In rare instances, VUR occurs in association with other diseases, such as the coloboma-ureteric-renal syndrome, which is caused by a PAX2 gene mutation. In this review, we present evidence that this common disorder may be caused by mutations in the developmental pathway of which the PAX2 gene forms a part. © 1996 Oxford University Press Eccles Michael R. Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand aut Bailey Ross R. Department of Nephrology, Christchurch Hospital, Christchurch, New Zealand aut Abbott George D. Department of Paediatrics, Christchurch School of Medicine, Christchurch, New Zealand aut Sullivan Michael J. Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand aut Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1425-1429 0964-6906 5:Supplement_1<1425 1996 5 hmg https://doi.org/10.1093/hmg/5.Supplement_1.1425 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.Supplement_1.1425 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Eccles Michael R. Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand aut NATIONALLICENCE 700 1- Bailey Ross R. Department of Nephrology, Christchurch Hospital, Christchurch, New Zealand aut NATIONALLICENCE 700 1- Abbott George D. Department of Paediatrics, Christchurch School of Medicine, Christchurch, New Zealand aut NATIONALLICENCE 700 1- Sullivan Michael J. Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/Supplement_1(1996-09), 1425-1429 0964-6906 5:Supplement_1<1425 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford