Abstract
Renal and urological anomalies in Down syndrome (DS) have received little attention compared with the nephrourological findings described in other chromosomal abnormalities. Renal hypoplasia, hydroureteronephrosis, ureterovesical and ureteropelvic junction obstruction, and vesicoureteral reflux, but not posterior urethral valves, have been associated with DS. We report the occurrence of posterior urethral valves in three male infants with DS at a single institution. All had multiple urological procedures for correction or palliation of obstruction. Children with DS may have an increased risk for developing posterior urethral valves and obstructive uropathy. Furthermore, they may also develop chronic renal failure secondary to posterior urethral valves. Therefore, we suggests that infants with DS be screened with ultrasonography for renal and urological abnormalities early in life and, if abnormal, a contrast voiding cystourethrogram be performed to rule out posterior urethral valves or other bladder or urethral abnormalities. A review of the renal and urological anomalies in DS reported in the literature since 1960 is presented.
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Berg JM, Crome L, France NE (1960) Congenital cardiac malformations in mongolism. Br Heart J 22: 331–346
Down JLH (1866) Observations on an ethnic classification of idiots. London Hospital, Clin Lect Rep. 3: 259–262
Warkany J, Passarge E, Smith LB (1966) Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112: 502–517
Egli F, Stalder G (1973) Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies. Humangenetik 18: 1–15
Kravtzova GI, Lazjuk GI, Lurie IW (1975) The malformations of the urinary system in autosomal disorders. Virchows Arch [A] 368: 167–178
Lenz S, Lund-Hansen T, Bang J, Christensen E (1985) A possible prenatal evaluation of renal function by aminoacid analysis on fetal urine. Prenat Diagn 5: 259–267
Ahmed S (1990) Vesico-ureteric reflux in Down syndrome: poor prognosis. Aust NZ J Surg 60: 113–116
Webb N, Hebert D, Arbus G (1993) Renal replacement therapy in Down's syndrome. Pediatr Nephrol 7: 771
Lang DJ, Van Dyke DC, Fran Heide RN, Lowe PL (1987) Hypospadias and urethral abnormalities in Down syndrome. Clin Pediatr (Phila) 26: 40–42
Ariel I, Wells TR, Singler DB (1991) The urinary system in Down syndrome: a study of 124 autopsy cases. Pediatr Pathol 11: 879–888
Benacerraf BR, Mandell J, Estroff JA, Harlow BL, Frigoletto FD (1990) Fetal pyelectasis: a possible association with Down syndrome. Obstet Gynecol 76: 58–60
Corteville JE, Dicke JM, Crane JP (1992) Fetal pyelectasis and Down syndrome: is genetic amniocentesis warranted? Obstet Gynecol 79: 770–772
New York State Department of Health Congenital Malformations Registry (1983–1990)
Naeye RL (1967) Prenatal organ and cellular growth with various chromosomal disorders. Biol Neonate 11: 248–260
Johnston JH, Coimbra JA (1970) Megalourethra. J Pediatr Surg 5: 304–308
Ozer FL (1974) Kidney malformations in mongolism. Birth defects 10: 189
Al Saadi AA, Yoshimoto M, Bree R, Farah J, Chang C, Sahney S, Shokeir MHK, Bernstein J (1984) A family study of renal dysplasia. Am J Med Genet 19: 669–677
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
Zerres K, Volpel MC, Weib H (1984) Cystic kidneys: genetics, pathologic anatomy, clinical picture and prenatal diagnosis. Hum Genet 68: 104–135
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
Passerini-Glazel G, Araguna F, Chiozza L, Artibani W, Rabinowitz R, Firlit C (1988) The PADUA procedure for the treatment of severe urethral hypoplasia. J Urol 140: 1247–1249
Kupferman JC, Stewart CL, Kaskel FJ, Fine RN (1993) Posterior urethral valves and Down syndrome: a new association? Clin Res 41: 619-A
Benda CE (1969) Down syndrome Mongolism and its management. Grune and Stratton, New York, p 208
Fitzsimmons J, Droste S, Shepard TH, Pascoe-Mason J, Fantel A (1990) Growth failure in second-trimester fetuses with trisomy 21. Teratology 42: 337–345
Gilbert EF, Opitz JM (1988) Developmental and other pathologic changes in syndromes caused by chromosomal abnormalities. Perspect Pediatr Pathol 7: 1–63
Gupta SK, Venkataseshan VS, Churg J (1991) Mesangiocapillary glomerulonephritis in Down syndrome. Am J Nephrol 11: 112–117
Takemura T, Yoshioka K, Akano N, Michihata I, Okada M, Maki S, Shigematsu H (1993) Immunotactoid glomerulopathy in a child with Down syndrome. Pediatr Nephrol 7: 86–88
Robson WLM, Leung AKC (1993) Down's syndrome and renal abnormalities. Pediatr Nephrol 7: 775
Tanguay RB, Galindo J (1966) Cystinuria associated with mongolism and identification of an abnormal pyrrolidine compound in urine. Am J Clin Pathol 46: 442
Hoefnagel D, Pomeroy J, Benz R (1968) Down syndrome associated with cystinuria. J Ment Defic Res 12: 317–321
Coburn SP, Seidenberg M, Mertz ET (1967) Clearance of uric acid, urea and creatinine in Down syndrome. J Appl Physiol 23: 579–580
Nishida Y, Akaoka I, Kobashashi M, Maruki K, Oshima Y (1979) Renal impairment in urate excretion in patients with Down syndrome. J Rheumatol 6: 103–107
Nishida Y, Akaoka I, Nishizawa T, Maruki M, Aikawa T, Mitamura T, Yokohari R, Horiuchi Y (1976) A case of gouty arthritis associated with Down syndrome. J Ment Defic Res 20: 277–283
Ciompi ML, Bazzichi LM, Bertolucci D, Mazzoni MR, Baleri P, Mencacci S, Machia D, Mariani G (1984) Uric acid metabolism in two patients with coexistent Down syndrome and gout. Clin Rheumatol 3: 229–233
Kupferman JC, Stewart CL, Kaskel FJ, Katz SP, Fine RN (1994) Chronic peritoneal dialysis in a child with Down syndrome. Pediatr Nephrol 8: 644–645
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Kupferman, J.C., Stewart, C.L., Kaskel, F.J. et al. Posterior urethral valves in patients with Down syndrome. Pediatr Nephrol 10, 143–146 (1996). https://doi.org/10.1007/BF00862055
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DOI: https://doi.org/10.1007/BF00862055