Hereditary vesicoureteric reflux: phenotypic variation and family screening.
Family screening programs offer the prospect of detecting hereditary vesicoureteric reflux before scars develop with urinary infections. This review describes minor to severe reflux and reflux nephropathy (RN) in five families where a member developed renal failure, including 3 children who developed both scars and renal failure. Analysis of families in the literature demonstrated similar phenotypic variation and the regular detection of both sterile reflux and RN by screening. Future systematic family studies could evaluate the predictive value of ultrasound in detecting significant reflux, assess the severity of congenital RN found in infants, and compare prophylactic regimes with historic controls.
Heale
W F
WF
Research Foundation, Royal Children's Hospital, Parkville, Melbourne, Australia.
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007668:Kidney / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000209:etiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011859:Radiography; D014521:Urethra / Q000000981:diagnostic imaging; D014718:Vesico-Ureteral Reflux / Q000235:genetics*