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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vesicoureteric reflux (retrograde passage of urine from the bladder into the ureter) can be secondary to bladder outlet obstruction or to a neuropathic bladder. However, most occurrences are due to a primary anatomical defect in the junction of the ureter and the bladder. Primary vesicoureteric reflux is usually found during investigation of urinary tract infection in children, but screening shows that it is present in 1-2% of symptom-free children. Moreover, it is often inherited in an autosomal dominant manner, making it one of the commonest of inherited disorders. Mutations of a transcription factor gene which controls prenatal development of the kidney and urinary tract have been found in a rare syndrome which includes vesicoureteric reflux. Vesicoureteric reflux is associated with pyelonephritis, renal scarring, hypertension and renal failure and these associations may be prevented by medical treatment. Early screening for this reflux is recommended in families with other affected members.
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PMID:Vesicoureteric reflux: all in the genes? Report of a meeting of physicians at the Hospital for Sick Children, Great Ormond Street, London. 880 94

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.
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PMID:Unravelling the genetics of vesicoureteric reflux: a common familial disorder. 887 47