McPherson E, Carey J, Kramer A, Hall J G, Pauli R M, Schimke R N, Tasin M H
Am J Med Genet. 1987 Apr;26(4):863-72. doi: 10.1002/ajmg.1320260413.
We are reporting on 7 families with both unilateral and bilateral renal agenesis (or severe dysplasia). This condition, termed hereditary renal adysplasia (HRA) [Buchta et al, 1973], is an autosomal dominant trait with incomplete penetrance and variable expression. Review of the literature on familial renal agenesis suggests that HRA is more common than previously supposed and may account for most recurrences of bilateral renal agenesis (BRA), even when the parents are normal. There are no consistent phenotypic differences between sporadic and familial renal agenesis. Associated non-urogenital anomalies, although more frequent in sporadic cases, have been reported in HRA. Use of several approaches, including the Weinberg Proband Method, segregation analysis, and empiric risk estimation, leads to the conclusion that autosomal dominant inheritance is the most likely pattern of transmission for most cases of renal agenesis. Penetrance is between 50% and 90%. Ultrasound study of the kidneys of parents, sibs, and other relatives is recommended in all families in which there is an individual with unilateral or bilateral renal agenesis. The empiric risk for recurrence of BRA in sibs has been estimated at 3.5% [Carter, et al, 1979] but in the offspring of affected or obligate heterozygotes for HRA, the empiric risk of bilateral severe renal adysplasia is 15-20%.
我们报告了7个患有单侧和双侧肾缺如（或严重发育异常）的家庭。这种病症被称为遗传性肾发育异常（HRA）[布赫塔等人，1973年]，是一种常染色体显性性状，具有不完全外显率和可变表达。对家族性肾缺如文献的回顾表明，HRA比以前认为的更为常见，并且可能是双侧肾缺如（BRA）大多数复发的原因，即使父母正常。散发性和家族性肾缺如之间没有一致的表型差异。虽然在散发性病例中更常见，但HRA中也有相关非泌尿生殖系统异常的报道。使用包括温伯格先证者法、分离分析和经验风险估计在内的几种方法，得出常染色体显性遗传是大多数肾缺如病例最可能的遗传模式的结论。外显率在50%至90%之间。对于所有有单侧或双侧肾缺如个体的家庭，建议对父母、同胞和其他亲属的肾脏进行超声检查。同胞中BRA复发的经验风险估计为3.5%[卡特等人，1979年]，但对于HRA的受累或必然杂合子的后代，双侧严重肾发育异常的经验风险为15 - 20%。
