National Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin 12, Ireland.
Nat Rev Urol. 2011 Aug 23;8(10):539-52. doi: 10.1038/nrurol.2011.113.
Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Reflux-associated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but no single major locus or gene for VUR has yet been identified and most researchers now acknowledge that VUR is genetically heterogeneous. Improvements in genome-scan techniques and continuously increasing knowledge of the genetic basis of VUR should help us to further understand its pathogenesis.
原发性膀胱输尿管反流（VUR）是儿童中最常见的泌尿科异常，影响 1-2%的儿科人群，30-40%的儿童出现尿路感染（UTI）。反流相关肾病是儿童高血压和慢性肾衰竭的主要原因。VUR 的遗传性和家族性已得到充分认识，多项研究报告称，VUR 患儿的兄弟姐妹发生反流的发生率高于一般儿科人群。VUR 的家族聚集表明遗传因素在其发病机制中起重要作用，但尚未确定 VUR 的单一主要基因座或基因，大多数研究人员现在承认 VUR 具有遗传异质性。基因组扫描技术的改进和对 VUR 遗传基础的不断深入了解，应有助于我们进一步了解其发病机制。
