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.
References
Egli F, Stalder G (1973) Malformation of kidney and urinary tract in common chromosomal aberrations. Hum Genet 18:1–15
Williams DI, Burkholder GV (1967) The prune belly syndrome. J Urol 98:244–251
Afifi AK, Rebeiz JM, Mire J, Andonian SS, Kaloustian VM der (1972) The myopathology of prune belly syndrome. J Neurol Sci 15:153–165
Edlman CM (1992) Pediatric kidney disease, 2nd edn. Little Brown, Boston, pp 2077–2084
Bai NSS, Ramakrishnan R, Lopez TA (1987) A typical manifestation of prune belly syndrome. Indian J Pediatr 54:119–124
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
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
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
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
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
Baird PA, Sadovnick AD (1987) Prune belly anomaly in Down syndrome (letter). Am J Med Genet 26:747–748
Dolan V, Hensey C, Brady HR (2003) Diabetic nephropathy: renal development gone awry? Pediatr Nephrol 18:75–84
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
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
Author information
Authors and Affiliations
Corresponding author
Rights 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
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00467-003-1254-6