Familial bilateral renal agenesis and hereditary renal adysplasia
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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.
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- Familial bilateral renal agenesis and hereditary renal adysplasia
Zeitschrift für Kinderheilkunde
Volume 115, Issue 2 , pp 111-129
- Cover Date
- Print ISSN
- Online ISSN
- Additional Links
- Familial bilateral renal agenesis
- Potter's syndrome
- Symptomatic deformity complex
- Developmental field complex
- Hereditary renal adysplasia
- Multifactorial determination
- Autosomal dominant inheritance
- Genetic counseling
- Industry Sectors
- Author Affiliations
- 1. Department of Pediatrics, Naval Hospital, 92055, Camp Pendleton, California
- 2. Department of Pathology, University of Wisconsin, Center for Health Sciences and Medical School, 53706, Madison, Wisconsin
- 3. Department of Obstetrics and Gynecology, University of Wisconsin, Center for Health Sciences and Medical School, 53706, Madison, Wisconsin
- 4. Departments of Pediatrics and Medical Genetics, University of Wisconsin, Center for Health Sciences and Medical School, 53706, Madison, Wisconsin