Murugasu B, Cole B R, Hawkins E P, Blanton S H, Conley S B, Portman R J
Department of Pediatrics, University of Texas Health Science Center, Houston.
Am J Kidney Dis. 1991 Oct;18(4):490-4. doi: 10.1016/s0272-6386(12)80118-1.
Renal dysplasia and agenesis as isolated findings are usually considered sporadic, noninherited abnormalities. We report three kindreds with familial renal adysplasia. Two or more children were affected in each of the families and at least one member--whether proband, sibling, or parent--had a clinically silent anomaly. Normal kidneys in the parents did not preclude the occurrence of renal adysplasia in more than one child. The empiric risks for offspring and first-degree relatives were 50% and 25%, respectively, suggesting a strong genetic factor such as a major dominant gene with variable expression. Because the disease appears to be genetic in some cases of renal adysplasia, careful screening of the proband's family, subsequent children, and pregnancies is important for the purpose of accurate genetic counseling.
肾发育异常和肾缺如作为单独的发现通常被认为是散发性的、非遗传性异常。我们报告了三个报告了三个患有家族性肾发育异常的家族。每个家族中有两个或更多儿童患病，并且至少有一名成员——无论是先证者、兄弟姐妹还是父母——有临床无症状的异常。父母肾脏正常并不排除不止一个孩子发生肾发育异常。后代和一级亲属的经验风险分别为50%和25%，提示存在一个强大的遗传因素，如具有可变表达的主要显性基因。由于在某些肾发育异常病例中该疾病似乎具有遗传性，因此为先证者的家族、后续儿童和孕妇进行仔细筛查对于准确的遗传咨询很重要。
