Familial bilateral renal agenesis and hereditary renal adysplasia

This paper reports three kindreds (A, B, C) with familial bilateral renal agenesis (BRA). Etiologically, BRA is considered a multifactorially determined disorder; pathogenetically it is viewed as a developmental field defect involving absence of both kidneys and ureters in all cases, and in other cases an associated spectrum of related field defects which range from absence of the uterus and vagina to sirenomelia. In BRA, Potter's syndrome represents a symptomatic deformity complex due to oligohydramnios.Two additional kindreds (D and E) in this paper show that unilateral absence of a kidney may occur in relatives of a propositus with severe bilateral renal adysplasia. The former defect is designated unilateral renal aplasia and is presumed to be a less severe form of bilateral renal adysplasia. In these two families, and in two others from the literature, autosomal dominant inheritance seems responsible for the presence of unilateral aplasia and bilateral adysplasia in different family members; this newly recognized genetic trait, is being designated hereditary renal adysplasia (HRA). In women with unilateral renal aplasia the associated tubal and uterine malformation may be responsible for prematurity plus an increased risk of spontaneous abortion.The opinions or assertions in this paper are those of the authors and are not to be construed as official or reflecting the views of the Navy Department or the Naval Service at large.Supported, in part, by NIH Grants GM 15422, 5 K04-HD 18982, and by a Grant from the National Foundation — March of Dimes. Contributed, in part, as paper No. 1609 from the University of Wisconsin Genetics Laboratory.