Abstract
A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy reports; 28 were ascertained through paediatric pathologists. The families of 108 of these were traced and visited.
The birth frequency in the year in which ascertainment was likely to be most complete, 1974, was estimated to be 0·12 per 1000 total births, but it is recognised that this will be an underestimate. No significant variation was found by geographical region, parental birth place, socioeconomic class, maternal age, or birth order. There was, however, an excess of conceptions in the spring quarter (March, April, and May), similar to, but in this series more marked than, that seen in neural tube malformations.
The proportion of sibs affected was 7 in 199 (3·5%); of these, 6 were bilaterally and 1 was unilaterally (with an enlarged contralateral cystic kidney) affected. This is rather too high to be explained by multifactorial inheritance unless the estimate of the birth frequency is much too low. The proportion of sibs affected was similar for index patients with `single' bilateral renal agenesis, with only embryologically related malformations, and for index patients with associated malformations of unrelated bodily systems. Of the 199 sibs, 5 had neural tube malformations, but in 3 of these instances the index patient also had a neural tube malformation as well as renal agenesis. Where the index patient had ureteric remnants, 1 in 12 sibs were affected, but this high proportion may well just be a chance effect.
Coincidence within families suggests that unilateral renal agenesis is genetically related to bilateral renal agenesis, and that cases of bilateral renal agenesis without ureters are not genetically different from those with ureteric remnants.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Buchta R. M., Viseskul C., Gilbert E. F., Sarto G. E., Opitz J. M. Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd. 1973 Aug 31;115(2):111–129. doi: 10.1007/BF00440537. [DOI] [PubMed] [Google Scholar]
- Cain D. R., Griggs D., Lackey D. A., Kagan B. M. Familial renal agenesis and total dysplasia. Am J Dis Child. 1974 Sep;128(3):377–380. doi: 10.1001/archpedi.1974.02110280107016. [DOI] [PubMed] [Google Scholar]
- DAVIDSON W. M., ROSS G. I. Bilateral absence of the kidneys and related congenital anomalies. J Pathol Bacteriol. 1954 Oct;68(2):459–474. doi: 10.1002/path.1700680220. [DOI] [PubMed] [Google Scholar]
- François J. Syndrome malformatif avec cryptophtalmie. Acta Genet Med Gemellol (Roma) 1969 Jan;18(1):18–50. doi: 10.1017/s1120962300012294. [DOI] [PubMed] [Google Scholar]
- Hack M., Jaffe J., Blankstein J., Goodman R. M., Brish M. Familial aggregation in bilateral renal agenesis. Clin Genet. 1974;5(2):173–177. doi: 10.1111/j.1399-0004.1974.tb01679.x. [DOI] [PubMed] [Google Scholar]
- Kohn G., Borns P. F. The association of bilateral and unilateral renal aplasia in the same family. J Pediatr. 1973 Jul;83(1):95–97. doi: 10.1016/s0022-3476(73)80324-5. [DOI] [PubMed] [Google Scholar]
- Leck I., Record R. G., McKeown T., Edwards J. H. The incidence of malformations in Birmingham, England, 1950-1959. Teratology. 1968 Aug;1(3):263–280. doi: 10.1002/tera.1420010305. [DOI] [PubMed] [Google Scholar]
- Mauer S. M., Dobrin R. S., Vernier R. L. Unilateral and bilateral renal agenesis in monoamniotic twins. J Pediatr. 1974 Feb;84(2):236–238. doi: 10.1016/s0022-3476(74)80608-6. [DOI] [PubMed] [Google Scholar]
- POTTER E. L. BILATERAL ABSENCE OF URETERS AND KIDNEYS: A REPORT OF 50 CASES. Obstet Gynecol. 1965 Jan;25:3–12. [PubMed] [Google Scholar]
- Pashayan H. M., Dowd T., Nigro A. V. Bilateral absence of the kidneys and ureters. Three cases reported in one family. J Med Genet. 1977 Jun;14(3):205–209. doi: 10.1136/jmg.14.3.205. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Schinzel A., Homberger C., Sigrist T. Bilateral renal agenesis in 2 male sibs born to consanguineous parents. J Med Genet. 1978 Aug;15(4):314–316. doi: 10.1136/jmg.15.4.314. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Winter J. S., Kohn G., Mellman W. J., Wagner S. A familial syndrome of renal, genital, and middle ear anomalies. J Pediatr. 1968 Jan;72(1):88–93. doi: 10.1016/s0022-3476(68)80404-4. [DOI] [PubMed] [Google Scholar]