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.
This is a preview of subscription content, access via your institution.
Buy single article
Instant access to the full article PDF.
Tax calculation will be finalised during checkout.
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
Tax calculation will be finalised during checkout.
Baron, C.: Bilateral agenesis of the kidneys in two consecutive infants. Amer. J. Obstet. Gynec. 67, 667 (1954).
Bound, J. P.: Two cases of congenital absence of one kidney in the same family. Letter to the Editor. Brit. med. J. 1943 II, 747.
Bryan, A. L., Nigro, J. A., Counseller, V. S.: One-hundred cases of congenital absence of the vagina. Surg. Gynec. Obstet 88, 79 (1959).
Carpentier, P. J., Potter, E. L.: Nuclear sex and genital malformation in 48 cases of renal agenesis with especial reference to non-specific female pseudohermaphroditism. Amer. J. Obstet. Gynec. 78, 235 (1959).
Carter, C. O.: Genetics of common disorders. Brit. med. Bull. 25, 52 (1969).
Davidson, W. M., Ross, G. I. M.: Bilateral absence of the kidneys and related congenital anomalies. J. Path. Bact. 68, 459 (1954).
DeMyer, W., Baird, I.: Mortality and skeletal malformations from amniocentesis and oligohydramnios in rats: cleft palate, clubfoot, microstomia and adactylia. Teratology 2, 33 (1969).
DeMyer, W., Zeman, W., Palmer, C. G.: The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arrhinencephaly). Pediatrics 34, 256 (1964).
Herrmann, J., France, T. D. Spranger, J. W., Opitz, J. M.: The Stickler syndrome. Submitted to Birth Defects Original Article Series.
Hilson, D.: Malformation of ears as sign of malformation of genito-urinary tract. Brit. med. J. 1947 II, 785.
Madisson, H.: Über das Fehlen beider Nieren (Aplasia renum bilateralis). Zbl. allg. Path. path. Anat. 60, 1 (1934).
Niswander, J. D., Chung, D. S., MacLean, C. J., Dronamraju, K.: Sex ratio and cleft lip with or without cleft palate. Lancet 1972 II, 858.
Opitz, J. M., Herrmann, J., Dieker, H.: The study of malformation syndromes in man. Birth Defects Original Article Series V 2, 1 (1969).
Opitz, J. M., Kaveggia, E. G., Pallister, P. D.: Studies of genetic malformation/ retardation syndromes. Proc. II Congr. IASSMD, pp. 115–119. Warsaw: Polish med. Pbul. 1971.
Potter, E. L.: Facial characteristics of infants with bilateral renal agenesis. Amer. J. Obstet. Gynec. 51, 885 (1946).
Potter, E. L.: Bilateral renal agenesis. J. Pediat. 29, 68 (1946).
Potter, E. L.: Pathology of the fetus and infant, pp. 429–432, sec. ed. Chicago: Year Book Medical Publishers 1961.
Potter, E. L.: Bilateral absence of ureters and kidneys: A report of 50 cases. Obstet. and Gynec. 25, 3 (1965).
Potter, E. L.: Normal and abnormal development of the kidney, pp. 85–102. Chicago: Year Book Medical Publishers 1972.
Rizza, J. M., Downing, S. E.: Bilateral agenesis in two female siblings. Amer. J. Dis. Child. 121, 60 (1971).
Sarto, G. E.: Genetic studies of primary amenorrhea. Thesis, University of Wisconsin 1971.
Schlegel, R. J., Aspillaga, J. J., Neu, R. L., Carneiro-Leão, J., Gardner, L. I.: An XX sex chromosome complement in an infant having male-type external genitalia, renal agenesis and other anomalies. J. Pediat. 69, 812 (1966).
Schmidt, E. C. H., Hartley, A. A., Bower R.: Renal aplasia in sisters. Arch. Path. 54, 403 (1952).
Smith, D. W.: Recognizable patterns of human malformation. Philadelphia: Saunders 1970.
Von Stockhausen, H. B.: Beitrag zur Problematik der Dysplasia renofacialis. Z. Kinderheilk. 105, 303 (1969).
Warkany, J.: Congenital malformations, pp. 1037–1039. Chicago: Year Book Medical Publishers 1971.
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.
About this article
Cite this article
Buchta, R.M., Viseskul, C., Sarto, G.E. et al. Familial bilateral renal agenesis and hereditary renal adysplasia. Z. Kinder-Heilk. 115, 111–129 (1973). https://doi.org/10.1007/BF00440537
- Familial bilateral renal agenesis
- Potter's syndrome
- Symptomatic deformity complex
- Developmental field complex
- Hereditary renal adysplasia
- Multifactorial determination
- Autosomal dominant inheritance
- Genetic counseling