Skip to main content
Log in

Prune-belly anomalies in a girl with Down syndrome

  • Brief Report
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

Abstract.

We report the first case of a girl born to a diabetic mother who was found to have Down syndrome and prune-belly anomalies (bilateral gross hydronephrosis, megaureter, and megacystis with abdominal muscle deficiency). The girl also had an atrioventricular septal defect. Diagnoses were confirmed with a cytogenetic study and micturating cystourethrography. She died at 29 days of age with a sudden collapse, most likely due to sepsis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Egli F, Stalder G (1973) Malformation of kidney and urinary tract in common chromosomal aberrations. Hum Genet 18:1–15

    CAS  Google Scholar 

  2. Williams DI, Burkholder GV (1967) The prune belly syndrome. J Urol 98:244–251

    CAS  PubMed  Google Scholar 

  3. Afifi AK, Rebeiz JM, Mire J, Andonian SS, Kaloustian VM der (1972) The myopathology of prune belly syndrome. J Neurol Sci 15:153–165

    Article  CAS  PubMed  Google Scholar 

  4. Edlman CM (1992) Pediatric kidney disease, 2nd edn. Little Brown, Boston, pp 2077–2084

  5. Bai NSS, Ramakrishnan R, Lopez TA (1987) A typical manifestation of prune belly syndrome. Indian J Pediatr 54:119–124

    CAS  PubMed  Google Scholar 

  6. Amacker EA, Grass FS, Hickey DE, Hisley JC (1986) Brief clinical report: an association of prune belly anomaly with trisomy 21. Am J Med Genet 23:919–923

    CAS  PubMed  Google Scholar 

  7. Curry CJR, Jensen K, Holland J, Miller L, Hall BD (1984) The Potter sequence: a clinical analysis of 80 cases. Am J Med Genet 19:679–702

    CAS  PubMed  Google Scholar 

  8. Wilson TA, Blethen SL, Vallone A, Alenick DS, Nolan P, Katz A, Amorillo TP, Golmuntz E, Emanuel BS, Driscoll DA (1993) DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am J Med Genet 47:1078–1082

    CAS  PubMed  Google Scholar 

  9. Mironiuk M, Kietlinska Z, Jezierska-Kasprzyk K, Piekosz-Orzechowska B (1997) A class of diabetes in mother, glycemic control in early pregnancy and occurrence of congenital malformations in newborn infants. Clin Exp Obstet Gynecol 24:193–197

    CAS  PubMed  Google Scholar 

  10. Martinez-Frias ML, Bermejo E, Rodriquez-Pinilla E, Prieto L, Frias JL (1998) Epidemiological analysis of outcome of pregnancy in gestational diabetic mothers. Am J Med Genet 78:140–145

    CAS  PubMed  Google Scholar 

  11. Baird PA, Sadovnick AD (1987) Prune belly anomaly in Down syndrome (letter). Am J Med Genet 26:747–748

    CAS  PubMed  Google Scholar 

  12. Dolan V, Hensey C, Brady HR (2003) Diabetic nephropathy: renal development gone awry? Pediatr Nephrol 18:75–84

    PubMed  Google Scholar 

  13. Guay-Woodford LM, Wright CJ, Walz G, Churchill GA (2000) Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model. J Am Soc Nephrol 11:1253–1260

    CAS  PubMed  Google Scholar 

  14. Kuida S, Beier DR (2000) Genetic localization of interacting modifiers affecting severity in a murine model of polycystic kidney disease. Genome Res 10:49–54

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Nafaa N. Al Harbi.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Al Harbi, N.N. Prune-belly anomalies in a girl with Down syndrome. Pediatr Nephrol 18, 1191–1192 (2003). https://doi.org/10.1007/s00467-003-1254-6

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-003-1254-6

Keywords

Navigation