Dominantly inherited renal adysplasia

摘要: We are reporting on 7 families with both unilateral and bilateral renal agenesis (or severe dysplasia). This condition, termed hereditary adysplasia (HRA) [Buchta et al, 1973], is an autosomal dominant trait incomplete penetrance variable expression. Review of the literature familial suggests that HRA more common than previously supposed may account for most recurrences (BRA), even v/hen parents normal. There no consistent phenotypic differences between sporadic agenesis. Associated non-urogenital anomalies, although frequent in cases, have been reported HRA. Use several approaches, including Weinberg Proband Method, segregation analysis, empiric risk estimation, leads to conclusion inheritance likely pattern transmission cases Penetrance 50% 90%. Ultrasound study kidneys parents, sibs, other relatives recommended all which there individual or The recurrence BRA sibs has estimated at 3.5% [Carter, 1979] but offspring affected obligate heterozygotes HRA, 15–20%.