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Familial Renal Agenesis and Total Dysplasia FREE

Delver R. Cain, MD; David Griggs, MD; Donald A. Lackey, MD; Benjamin M. Kagan, MD
[+] Author Affiliations

Received for publication March 9, 1973; accepted Feb 12, 1974.

Reprint requests to Department of Pathology, Cedars-Sinai Medical Center, Division of Laboratories, 4833 Fountain Ave, Los Angeles, CA 90029 (Dr. Cain).


Am J Dis Child. 1974;128(3):377-380. doi:10.1001/archpedi.1974.02110280107016.
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Two consecutive male infants born to healthy parents died shortly after birth. Both had severe anomalies of the urinary tract. The first had bilateral agenesis of the kidneys, and the second had agenesis of one kidney and total dysplasia of the opposite. The question of the chance of recurrence in a subsequent pregnancy arose. With this in mind, reported instances of unilateral renal agenesis, bilateral renal agenesis, and total renal dysplasia occurring in families were reviewed. From the data currently available, it is not possible to predict the relative risk of recurrence of these anomalies. The data suggest the possibility of an autosomal-recessive pattern or a possible environmental or teratogenic factor.

REFERENCES

Madisson H:  Uber das Fehlen beider Nieren . Zentralbl Allg Pathol 60:1-8, 1934;.
Bound JP:  Two cases of congenital absence of one kidney in the same family . Br Med J 2:747, 1943;.
Link to Article
Baron C:  Bilateral agenesis of the kidneys in two consecutive infants . Am J Obstet Gynecol 67:667-670, 1954;.
Arends NW:  Bilateral renal agenesis in siblings . J Am Osteopath Assoc 56:681-684, 1957;.
Hilson D:  Malformation of ears as a sign of malformation of genitorurinary tract . Br Med J 2:785-789, 1957;.
Link to Article
Ivemark BI, Oldfelt V, Zetterström R:  Familial dysplasia of kidneys, liver and pancreas: A probably genetically determined syndrome . Acta Paediatr Upps 48:1-11, 1959;.
Link to Article
Gorvoy JD, Smulewicz J, Roghfeld SH:  Unilateral renal agenesis in two siblings . Pediatrics 29:270-273, 1962;.
Winter JSD, et al:  A familial syndrome of renal, genital, and middle ear anomalies . J Pediatr 72:88-93, 1968;.
Link to Article
Schmidt ECH, Hartley AA, Bower R:  Renal aplasia in sisters . Arch Pathol 54:403-406, 1952;.
Miranda D, Schinella RA, Finegold MJ:  Familial renal dysplasia: Microdissection studies in siblings with associated central nervous system and hepatic malformations . Arch Pathol 93:483-491, 1972;.
Rizza JM, Downing SE:  Bilateral renal agenesis in two female siblings . Am J Dis Child 121:60-63, 1971;.
Kohn G, Borns PE:  The association of bilateral and unilateral renal aplasia in the same family . J Pediatr 83:95-97, 1973;.
Link to Article
Stevens AR:  Pelvic single kidneys . J Urol 37:610-618, 1937;.
Potter EL:  Bilateral renal agenesis . J Pediatr 29:68-76, 1946;.
Link to Article
Goldbloom RB, et al:  Hereditary renal disease associated with nerve deafness and ocular lesions . Pediatrics 20:240-252, 1957;.
Bernstein J:  The morphogenesis of renal parenchymal maldevelopment (renal dysplasia) . Pediatr Clin North Am 18:395-407, 1971;.
Bernstein J:  Heritable cystic disorders of the kidney: The mythology of polycystic disease . Pediatr Clin North Am 18:435-444, 1971;.
Bernstein J:  Morphology of inherited renal developmental abnormalities . Birth Defects 6:9-11, 1970;.
Hawkins CF:  Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns . Lancet 1:803-808, 1950;.
Link to Article
Kuiper JJ:  Medullary sponge kidney in three generations . NY State J Med 71:2665-2669, 1971;.
Schimke RN:  Hereditary renal-retinal dysplasia . Ann Intern Med 70:735-744, 1969;.
Link to Article
Ferrandez A:  Potter's syndrome (kidney agenesis) with chromosome abnormalities in the patient and mosaicism in the father . Helv Paediatr Acta 26:210-214, 1971;.
Passarge E, Sutherland JM:  Potter's syndrome: Chromosome analysis of three cases with Potter's syndrome or related syndromes . Am J Dis Child 109:80-84, 1965;.

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References

Madisson H:  Uber das Fehlen beider Nieren . Zentralbl Allg Pathol 60:1-8, 1934;.
Bound JP:  Two cases of congenital absence of one kidney in the same family . Br Med J 2:747, 1943;.
Link to Article
Baron C:  Bilateral agenesis of the kidneys in two consecutive infants . Am J Obstet Gynecol 67:667-670, 1954;.
Arends NW:  Bilateral renal agenesis in siblings . J Am Osteopath Assoc 56:681-684, 1957;.
Hilson D:  Malformation of ears as a sign of malformation of genitorurinary tract . Br Med J 2:785-789, 1957;.
Link to Article
Ivemark BI, Oldfelt V, Zetterström R:  Familial dysplasia of kidneys, liver and pancreas: A probably genetically determined syndrome . Acta Paediatr Upps 48:1-11, 1959;.
Link to Article
Gorvoy JD, Smulewicz J, Roghfeld SH:  Unilateral renal agenesis in two siblings . Pediatrics 29:270-273, 1962;.
Winter JSD, et al:  A familial syndrome of renal, genital, and middle ear anomalies . J Pediatr 72:88-93, 1968;.
Link to Article
Schmidt ECH, Hartley AA, Bower R:  Renal aplasia in sisters . Arch Pathol 54:403-406, 1952;.
Miranda D, Schinella RA, Finegold MJ:  Familial renal dysplasia: Microdissection studies in siblings with associated central nervous system and hepatic malformations . Arch Pathol 93:483-491, 1972;.
Rizza JM, Downing SE:  Bilateral renal agenesis in two female siblings . Am J Dis Child 121:60-63, 1971;.
Kohn G, Borns PE:  The association of bilateral and unilateral renal aplasia in the same family . J Pediatr 83:95-97, 1973;.
Link to Article
Stevens AR:  Pelvic single kidneys . J Urol 37:610-618, 1937;.
Potter EL:  Bilateral renal agenesis . J Pediatr 29:68-76, 1946;.
Link to Article
Goldbloom RB, et al:  Hereditary renal disease associated with nerve deafness and ocular lesions . Pediatrics 20:240-252, 1957;.
Bernstein J:  The morphogenesis of renal parenchymal maldevelopment (renal dysplasia) . Pediatr Clin North Am 18:395-407, 1971;.
Bernstein J:  Heritable cystic disorders of the kidney: The mythology of polycystic disease . Pediatr Clin North Am 18:435-444, 1971;.
Bernstein J:  Morphology of inherited renal developmental abnormalities . Birth Defects 6:9-11, 1970;.
Hawkins CF:  Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns . Lancet 1:803-808, 1950;.
Link to Article
Kuiper JJ:  Medullary sponge kidney in three generations . NY State J Med 71:2665-2669, 1971;.
Schimke RN:  Hereditary renal-retinal dysplasia . Ann Intern Med 70:735-744, 1969;.
Link to Article
Ferrandez A:  Potter's syndrome (kidney agenesis) with chromosome abnormalities in the patient and mosaicism in the father . Helv Paediatr Acta 26:210-214, 1971;.
Passarge E, Sutherland JM:  Potter's syndrome: Chromosome analysis of three cases with Potter's syndrome or related syndromes . Am J Dis Child 109:80-84, 1965;.

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