Advertisement

Pediatric Nephrology

, Volume 8, Issue 1, pp 81–82 | Cite as

Potter sequence and consanguinity — a case report

  • Björn R. Fischler
  • Ulla B. Berg
Brief Report

Abstract

The first child of first-cousin parents had Potter sequence, including rudimentary, dysplastic kidneys and pulmonary hypoplasia. The girl died after 5 h. During the next pregnancy, early fetal ultrasound was normal. In the 33rd week, however, ultrasound revealed oligohydramniosis and reduced renal size. After 40 weeks of gestation a healthy girl of normal weight without any stigmata was born. Her pulmonary function and X-ray were normal. Renal ultrasound demonstrated small kidneys with high echogenicity. There was a transient renal insufficiency with a peak serum creatinine of 160 μmol/l. At 5 months of age the infant still has an increased serum creatinine concentration of 57 μmol/l and an inulin clearance of 29 ml/min per 1.73 m2. In this case there is a possibility of an autosomal recessive inheritance.

Key words

Potter sequence Renal dysplasia Consanguinity Inheritance 

References

  1. 1.
    Curry CJR, Jensen K, Holland J, Miller L, Hall BD (1984) The Potter sequence: a clinical analysis of 80 cases. Am J Med Genet 19: 679–702PubMedGoogle Scholar
  2. 2.
    Morse RP, Rawnsley E, Crowe HC, Marinpadilla M, Graham JM Jr (1987) Bilateral renal agenesis in three consecutive siblings. Prenat Diagn 7:573–579PubMedGoogle Scholar
  3. 3.
    Potter EL (1946) Bilateral renal agenesis. J Pediatr 29:68–76Google Scholar
  4. 4.
    Carter CO, Evans K, Pescia G (1979) A family study of renal agenesis. J Med Genet 16:176–188PubMedGoogle Scholar
  5. 5.
    Fantel A, Shepard T (1975) Potter sequence — nonrenal features induced by oligoamnios. Am J Dis Child 129:1346–1347PubMedGoogle Scholar
  6. 6.
    Thomas I, Smith D (1974) Oligohydramnios, cause of the nonrenal features of Potter sequence, including pulmonary hypoplasia. J Pediatr 84:811–814PubMedGoogle Scholar
  7. 7.
    DeMeyer W, Baird I (1969) Mortality and skeletal malformations from amniocentesis and oligohydramnios in rats: cleft palate, club-foot, microstomia, adactyly. Teratology 2:33PubMedGoogle Scholar
  8. 8.
    Ferm V, Saxon A (1971) Ainniotic fluid volume in expermentally induced renal agenesis and anencephaly. Experientia 27:1066–1068PubMedGoogle Scholar
  9. 9.
    Rizza JM, Downing SE (1971) Bilateral renal agenesis in two female siblings. Am J Dis Child 121:60–63PubMedGoogle Scholar
  10. 10.
    Hack M, Jaffe J, Blankstein J, Goodman RM, Brish M (1974) Familial aggregation in bilateral renal agenesis. Clin Genet 5:173–177PubMedGoogle Scholar
  11. 11.
    Pashayan HM, Dowd T, Nigro AV (1977) Bilateral absence of the kidneys and ureters. Three cases reported in one family. J Med Genet 14:205–209PubMedGoogle Scholar
  12. 12.
    MacMahon P, Blackie RAS, House MJ, Risdon RA, Crawfurd MA d' (1990) A further family with congenital renal proximal tubular dysgenesis. J Med Genet 27:395–398PubMedGoogle Scholar
  13. 13.
    Allanson JE, Hunter AGW, Mettler GS, Jimenez C (1992) Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review. Am J Med Genet 43:811–814PubMedGoogle Scholar
  14. 14.
    Buchta R, Viseskul C, Gilbert E, Sarto G, Opitz J (1973) Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd 115:111–129PubMedGoogle Scholar
  15. 15.
    Roodhooft AM, Birnholz JC, Holmes LB (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341–1345PubMedGoogle Scholar
  16. 16.
    Schinzel A, Homberger C, Sigrist T (1978) Bilateral renal agenesis in 2 male sibs born to consanguineous parents. J Med Genet 15: 314–316PubMedGoogle Scholar

Copyright information

© IPNA 1994

Authors and Affiliations

  • Björn R. Fischler
    • 1
  • Ulla B. Berg
    • 1
  1. 1.Department of PaediatricsKarolinska Institute, Huddinge HospitalHuddingeSweden

Personalised recommendations