Zeitschrift für Kinderheilkunde

, Volume 115, Issue 2, pp 111–129

Familial bilateral renal agenesis and hereditary renal adysplasia

  • Richard M. Buchta
  • Chirane Viseskul
  • Gloria E. Sarto
  • John M. Opitz
Article

DOI: 10.1007/BF00440537

Cite this article as:
Buchta, R.M., Viseskul, C., Sarto, G.E. et al. Z. Kinder-Heilk. (1973) 115: 111. doi:10.1007/BF00440537

Abstract

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.

Key words

Familial bilateral renal agenesisPotter's syndromeSymptomatic deformity complexDevelopmental field complexHereditary renal adysplasiaMultifactorial determinationAutosomal dominant inheritanceGenetic counseling

Copyright information

© Springer-Verlag 1973

Authors and Affiliations

  • Richard M. Buchta
    • 1
  • Chirane Viseskul
    • 2
  • Gloria E. Sarto
    • 3
  • John M. Opitz
    • 4
  1. 1.Department of PediatricsNaval HospitalCamp Pendleton
  2. 2.Department of PathologyUniversity of Wisconsin, Center for Health Sciences and Medical SchoolMadison
  3. 3.Department of Obstetrics and GynecologyUniversity of Wisconsin, Center for Health Sciences and Medical SchoolMadison
  4. 4.Departments of Pediatrics and Medical GeneticsUniversity of Wisconsin, Center for Health Sciences and Medical SchoolMadison