title: Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia.
abstract: Renal agenesis/adysplasia is the leading etiology of end stage renal disease in children. The etiology for renal agenesis/adysplasia has not been identified. The purpose of the present study was to determine if renal agenesis/adysplasia occur in a familial pattern. Twenty seven cases of bilateral renal agenesis/adysplasia were identified by review of autopsy records, and four were excluded. A male excess of 2.8:1 was noted with a mean gestation of 35 weeks. Prenatal and family histories were obtained on 11/23 families. Potential embryologic stressors were identified in 8/11 pregnancies. Thirty-four 1st and 2nd degree relatives from five families participated in a renal ultrasound exam. An increased prevalence of congenital renal anomalies was identified in the relatives of index patients with bilateral renal agenesis/adysplasia (14.7%) compared to controls (2.2%), with a recurrence risk of 6.2 for 1st degree relatives. The most frequently identified renal anomalies in the family members were solitary kidneys and duplicated collecting systems. The increased prevalence of a range of renal anomalies within affected families raises the possibility that isolated renal malformations result from unidentified gene-environment interactions.
authors.affiliation: Division of Nephrology, Department of Pediatrics, Columbus Children's Hospital, The Ohio State University College of Medicine, 700 Children's Drive, Columbus, OH 43205, USA. SchwadeA@pediatrics.ohio-state.edu
authors.forename: Andrew L
authors.initials: AL
authors.lastname: Schwaderer
authors.forename: Carlton M
authors.initials: CM
authors.lastname: Bates
authors.forename: Kirk M
authors.initials: KM
authors.lastname: McHugh
authors.forename: Kim L
authors.initials: KL
authors.lastname: McBride
mesh_terms: D015331:Cohort Studies; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000151:congenital* / Q000453:epidemiology; D007676:Kidney Failure, Chronic / Q000209:etiology; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D015995:Prevalence; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D014463:Ultrasonography
chemical_list: C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases