Bankier A, de Campo M, Newell R, Rogers J G, Danks D M
J Med Genet. 1985 Apr;22(2):104-11. doi: 10.1136/jmg.22.2.104.
A family study of perinatally lethal renal disease (PLRD) was undertaken in the State of Victoria, Australia, for the years 1961 to 1980. A total of 221 cases was ascertained through hospital and necropsy records and confirmed by necropsy findings. There were 134 cases of bilateral renal agenesis (BRA), 34 cases of unilateral agenesis with dysplasia of the other kidney (URA/RD), 42 cases of bilateral renal dysplasia (BRD), and 11 cases of renal aplasia. Parents of 131 babies were interviewed and 153 parents from 82 families had a renal ultrasound examination. In the period of best ascertainment (1975 to 1980) the frequency of PLRD was 0.27 per 1000 and of BRA 0.16 per 1000. There were 10 cases of sirenomelia, a frequency of 0.008 per 1000. For all families of PLRD, 15 of 423 (3.6%) sibs and three of 1579 (0.2%) first cousins were affected. One family had three sibs with BRA and four had two sibs with BRA. One pair of sibs and two first cousins had BRA in one and URA/RD in the other affected. One baby had BRD with an affected first cousin. The nature of the renal lesion was not established. When the index case had BRA, 14 in 283 (5.6%) sibs had PLRD. Where the index case had BRA and urogenital defects, but no birth defects in other organs, 12 of 148 sibs (8%) were affected. None of the sibs had BRA when the index case had BRA as part of a multiple malformation complex. In the multiple malformation group, however, five of 40 (12.5%) sibs had similar patterns of malformations. Renal ultrasound abnormalities were no more frequent in parents of two affected babies (one of 18) than in the other parents (nine of 135). Our findings confirm that BRA and URA are genetically related. There are a number of conclusions which are important for genetic counselling. There is a high likelihood of recurrence (8%) in sibs when the index case has BRA and urogenital abnormalities alone. When BRA is part of a multiple malformation complex, the risk of recurrence of multiple malformations is significant (12.5%), but risk recurrence of BRA is low. The finding of renal ultrasound abnormalities in the parents was not informative.
1961年至1980年期间，在澳大利亚维多利亚州开展了一项围产期致死性肾病（PLRD）的家族研究。通过医院记录和尸检记录共确诊了221例病例，并经尸检结果证实。其中双侧肾缺如（BRA）134例，一侧肾缺如伴另一侧肾发育异常（URA/RD）34例，双侧肾发育异常（BRD）42例，肾发育不全11例。对131名患儿的父母进行了访谈，并对来自82个家庭的153名父母进行了肾脏超声检查。在最佳确诊期（1975年至1980年），PLRD的发病率为每1000例中有0.27例，BRA为每1000例中有0.16例。有10例并腿畸形，发病率为每1000例中有0.008例。在所有PLRD家庭中，423名兄弟姐妹中有15名（3.6%）、1579名一级表亲中有3名（0.2%）患病。一个家庭中有3名患BRA的兄弟姐妹，4个家庭中有2名患BRA的兄弟姐妹。一对兄弟姐妹和两对一级表亲中，一人患BRA，另一人患URA/RD。一名婴儿患BRD，其一级表亲患病。肾脏病变的性质尚未确定。当索引病例患BRA时，283名兄弟姐妹中有14名（5.6%）患PLRD。当索引病例患BRA且有泌尿生殖系统缺陷，但其他器官无出生缺陷时，148名兄弟姐妹中有12名（8%）患病。当索引病例患BRA是多重畸形综合征的一部分时，其兄弟姐妹均未患BRA。然而，在多重畸形组中，40名兄弟姐妹中有5名（12.5%）有类似的畸形模式。两个患病婴儿的父母（18人中1人）的肾脏超声异常情况并不比其他父母（135人中9人）更常见。我们的研究结果证实BRA和URA具有遗传相关性。有一些结论对遗传咨询很重要。当索引病例仅患BRA和泌尿生殖系统异常时，其兄弟姐妹复发的可能性很高（8%）。当BRA是多重畸形综合征的一部分时，多重畸形复发的风险很高（12.5%），但BRA复发的风险很低。在父母中发现肾脏超声异常并无参考价值。
