A family study of renal agenesis

Carter, C. O.; Evans, Kathleen; Pescia, G

doi:10.1136/jmg.16.3.176

Cited by 90 publications

(45 citation statements)

References 12 publications

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“…Although renal agenesis is reported to be frequently sporadic, 65 families with recurrence of renal agenesis or related anomalies in the absence of any clearly defined syndrome have been reported [Madisson, 1934;Bound, 1943; KallCn and Winberg, 1944;Waardenburg, 1952;Baron, 1954;Arends, 1957; Hilson, 1957;Rosenfeld, 1959;Gorvoy et al, 1962; Carbonell-Estrany and Castejon, 1964;Rizza and Downing, 1971;Buchta et al, 1973; Kohn and Borns, 1973; Whitehouse and Montrose, 1973; Caine et al, 1974; Hack et al, 1974;Mauer et al, 1974;Morillo-Cucci et al, 1974;Wiersma et al, 1976;Zonana et al, 1976;Kaffe et al, 1977;Pashayan et al, 1977;Schinzel et al, 1978;Carter et al, 1979;Horr, 1979;Knudsen et al, 1979;Miskin, 1979;Balfour and Lawrence, 1980;Schimke and King, 1980;Remes et al, 1981;Roodhooft and Holmes, 1981;Helin et al, 1983; Biedl et al, 1984;Curry et al, 1984;Roodhooft et al, 1984;Yates et al, 1984;Romero et al, 1985; Wilson and Hayden, 19851. In 33 families, only sibs are affected, suggesting autosomal recessive inheritance, but in most of these, the parents did not have renal evaluation.…”

Section: Discussionmentioning

confidence: 99%

“…Pedigrees suggestive of autosomal recessive, autosomal dominant, and X-linked inheritance have all been published, but it is clear that no single mendelian pattern fits all the available data. Polygenic inheritance also seems unlikely since the empiric recurrence risk of 3.5 % reported by Carter et a1 [1979] is greater than expected for a polygenic trait affecting 1/4500 [Potter and Craig, 19751 to 1/8OOO [Carter et al, 1979; Wilson and Baird, 19851 births.Relatives of infants with BRA/D are sometimes found to have less serious renal anomalies, particularly unilateral renal agenesis (URA). Buchta et a1 [ 19731 postulated dominant inheritance of a gene for varying degrees of renal agenesis or severe dysplasia, which they termed hereditary renal adysplasia (HRA) .…”

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confidence: 97%

“…Because the available data do not yield meaningful results when segregation analysis is limited to bilateral cases, it is necessary to turn to empiric methods. Empiric estimation of the penetrance of the renal adysplasia gene was based on 24 kindreds which were presumed, because of occurrence of both unilateral and bilateral renal agenesis in the same family, to have dominant renal adysplasia (7 reported here and 17 from the literature; [Hilson, 1957;Buchta et al, 1973; Kohn and Borns, 1973;Zonana et al, 1976;Carter et al, 1979;Balfour and Lawrence, 1980;Schimke and King, 1980;Remes et al, 1981;Curry et al, 1984; Biedl et al, 1984; Roodhooft et al, 19841; 3 sets of partially concordant monozygotic twins were excluded). In these kindreds, a total of 116 heterozygotes was identified on the basis of known renal anomalies and/or obligate transmission of the gene.…”

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confidence: 99%

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Dominantly inherited renal adysplasia

et al. 1987

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We are reporting on 7 families with both unilateral and bilateral renal agenesis (or severe dysplasia). This condition, termed hereditary renal adysplasia (HRA) [Buchta et al, 1973], is an autosomal dominant trait with incomplete penetrance and variable expression. Review of the literature on familial renal agenesis suggests that HRA is more common than previously supposed and may account for most recurrences of bilateral renal agenesis (BRA), even when the parents are normal. There are no consistent phenotypic differences between sporadic and familial renal agenesis. Associated non-urogenital anomalies, although more frequent in sporadic cases, have been reported in HRA. Use of several approaches, including the Weinberg Proband Method, segregation analysis, and empiric risk estimation, leads to the conclusion that autosomal dominant inheritance is the most likely pattern of transmission for most cases of renal agenesis. Penetrance is between 50% and 90%. Ultrasound study of the kidneys of parents, sibs, and other relatives is recommended in all families in which there is an individual with unilateral or bilateral renal agenesis. The empiric risk for recurrence of BRA in sibs has been estimated at 3.5% [Carter, et al, 1979] but in the offspring of affected or obligate heterozygotes for HRA, the empiric risk of bilateral severe renal adysplasia is 15-20%.

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Section: Discussionmentioning

confidence: 99%

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Dominantly inherited renal adysplasia

et al. 1987

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“…This is extremely important for genetic counseling because VATER association occurs sporadically [Cilento et al, 1994], whereas other causes of bilateral renal agenesis may be associated with a familial predilection [Carter et al, 1979]. Three of the 4 reported patients also had at least four anomalies consistent with the VATER association.…”

Section: Discussionmentioning

confidence: 97%

Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: Report and review

et al. 1997

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Renal agenesis and obstructive urinary tract anomalies causing oligohydramnios usually result in pulmonary hypoplasia. We report on the first female monoamniotic twin born with a combination of bilateral renal agenesis, agenesis of the urinary collecting system, absent external genitalia, anal atresia and single umbilical artery, compatible with VATER association but with normal pulmonary function. The infant had none of the manifestations of Potter sequence, in particular the facial changes and pulmonary hypoplasia typically associated with bilateral renal a/ dysgenesis. The monoamniotic cotwin had normal renal function, such that sufficient amniotic fluid volume was maintained. This patient emphasizes the importance of adequate amniotic fluid volume for normal pulmonary development. The possible underestimation of genital malformations in the VATER association should be considered. Also noteworthy is the rare absence of external genitalia. Am. J. Med. Genet. 73:76-79, 1997.

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“…Carter [8] however considered that this risk may be estimated as high as 3.5%. Besides, Buchta et al [6] Polycystic Kidneys (n = 18).…”

Section: Renal Malformationsmentioning

confidence: 99%

Major Malformations of the Urinary Tract

Gillerot¹,

Koulischer²

1988

Neonatology

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This paper outlines the problem of major malformations of the urinary tract, their frequency and their etiology. It is based on data analysis of 900 neonatal autopsies performed in our center from 1978 to 1987. These major malformations are often lethal and they can essentially be separated into disorders of the kidney and malformations of the lower urinary tract. Single-gene disorders are often seen in the former whereas the second group is more likely to be multifactorially controlled. We do insist on the importance of a strict collaboration between pathologists and geneticists.

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A family study of renal agenesis

Cited by 90 publications

References 12 publications

Dominantly inherited renal adysplasia

Dominantly inherited renal adysplasia

Normal pulmonary function in a monoamniotic twin discordant for bilateral renal agenesis: Report and review

Major Malformations of the Urinary Tract

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