The genetics of primary vesico-ureteric reflux.

作者: Eccles Mr , Jacobs Gh

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摘要: Introduction: Vesico-ureteric reflux (VUR), of urine from the bladder into ureter and towards kidney, is an important cause end-stage renal failure in both children adults. Primary VUR considered to be a result disruption normal anti-reflux mechanism ureterovesical junction (UVJ). common, occurring approximately 1% 2% newborns Caucasian populations. The aetiology thought involve substantial genetic component, supported by observation that frequently occurs multiple members same family. purpose this article review literature supporting cau se VUR, draw together observations make suggestions regarding differential diagnosis which might help future stud ies on VUR. Results: A common theme arising was notion may caused genes population. However, any one individual with carry single dominant mutant allele. Overall, progress has been made mapping puta tive loci humans mice, although mode(s) inheritance exact nature underlying defect are still p oorly understood. Conclusions: It likely over next few years will mapped and, once identified, challenge understand how changes expression these lead Ann Acad Med Singapore 2000; 29:337-45

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