Posterior urethral valves in patients with down syndrome
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《美国医学杂志》
1 Department of Pediatric Surgery, PGIMER, Chandigarh-160 012, India
2 Department of Pediatric Medicine, PGIMER, Chandigarh-160 012, India
Renal and urological anomalies associated with Down syndrome (DS) have been reported scantily and have received little attention from pediatricians and pediatric urologists. This association is not mentioned in comprehensive textbooks of pediatrics and pediatric urology. We encountered six patients of posterior urethral valves (PUV) in association with Down syndrome where the diagnosis was delayed. Out of the 230 patients of posterior urethral valves (PUV) in the follow up with the authors, six patients had associated DS. Only one of these was picked up from the genetic clinic where over 500 DS patients are registered. Rest of five patients were referred directly to Pediatric Urology services. The records of these patients were analyzed retrospectively. The age of presentation was between 1 yrs to 7 yrs. All the babies had primary valve fulguration. Three out of six patients had raised serum creatinine and four had bilateral hydronephrosis. These patients are on follow up in Pediatric Nephrology/ Urology and genetic clinics. Karyotypes of four of the six babies showed 21 trisomy. Delay in diagnosis of PUV was noted in all the patients though the treating pediatrician diagnosed them to have DS right at birth. The babies had symptoms of urinary incontinence/dribbling that was mentioned by the parents to the treating physicians and was not taken seriously.
Renal and urological anomalies in Down syndrome have received little attention in the standard books.[1] Other babies with chromosomal anomalies have detailed description of nephrourological diseases available.[2] Renal hypoplasia, hydroureteronephrosis, ureterovesical and uropelvic junction obstruction, vesicoureteric reflux (VUR) and posterior urethral valves have been reported with Down syndrome, with PUV being the least common. Only three patients of PUV with Down syndrome are reported earlier.[3] There is lack of awareness of association of DS with PUV and hence the delay in referring the patients to us. The follow up of our children has shown stable renal functions at the end of one year of follow up. Three of six had VUR and were on uroprophylaxis. One of our patients was reported with scrotal urinary sinuses.[4] There is a risk for development of renal failure in patients with PUV. Due to mental retardation and other social problems families of patients with Down syndrome may not report the poor urinary stream. Hence patients with Down syndrome may be screened by ultrasonography routinely and if found abnormal may have micturating cystourethrogram (MCU) and referred for further treatment.
References
1. Glassberg KI, Horowitz M. Urethral valve and other anomalies of the male urethra. In Belman AB, King LR, Kramer SA, eds. Clinical Pediatric Urology . 4th edn. Philadelphia; WB Saunders, 2002; pp: 899-945.
2. Brock JW, Adams MC. The male urethra. In Gillenwater JY, Grayhack JT, Howards SS, Mitchell MM, eds. Adult and Pediatric Urology. 4 edn. Philadelphia; WB Saunders, 2002; 2379-2393.
3. Kuperman JC, Stewart CL, Kaskel FJ, Fine RN. Posterior urethral valves in patients with Down Syndrome. Pediatr Nephrol 1996; 10: 143-146.
4. Narasimhan KL, Gupta A. Posterior Urethral valves with Down's Syndrome presenting as Scrotal Urinary Sinuses. Indian Pediatrics (In Press 2004).(Narasimhan KL, Kaur Balpi)
2 Department of Pediatric Medicine, PGIMER, Chandigarh-160 012, India
Renal and urological anomalies associated with Down syndrome (DS) have been reported scantily and have received little attention from pediatricians and pediatric urologists. This association is not mentioned in comprehensive textbooks of pediatrics and pediatric urology. We encountered six patients of posterior urethral valves (PUV) in association with Down syndrome where the diagnosis was delayed. Out of the 230 patients of posterior urethral valves (PUV) in the follow up with the authors, six patients had associated DS. Only one of these was picked up from the genetic clinic where over 500 DS patients are registered. Rest of five patients were referred directly to Pediatric Urology services. The records of these patients were analyzed retrospectively. The age of presentation was between 1 yrs to 7 yrs. All the babies had primary valve fulguration. Three out of six patients had raised serum creatinine and four had bilateral hydronephrosis. These patients are on follow up in Pediatric Nephrology/ Urology and genetic clinics. Karyotypes of four of the six babies showed 21 trisomy. Delay in diagnosis of PUV was noted in all the patients though the treating pediatrician diagnosed them to have DS right at birth. The babies had symptoms of urinary incontinence/dribbling that was mentioned by the parents to the treating physicians and was not taken seriously.
Renal and urological anomalies in Down syndrome have received little attention in the standard books.[1] Other babies with chromosomal anomalies have detailed description of nephrourological diseases available.[2] Renal hypoplasia, hydroureteronephrosis, ureterovesical and uropelvic junction obstruction, vesicoureteric reflux (VUR) and posterior urethral valves have been reported with Down syndrome, with PUV being the least common. Only three patients of PUV with Down syndrome are reported earlier.[3] There is lack of awareness of association of DS with PUV and hence the delay in referring the patients to us. The follow up of our children has shown stable renal functions at the end of one year of follow up. Three of six had VUR and were on uroprophylaxis. One of our patients was reported with scrotal urinary sinuses.[4] There is a risk for development of renal failure in patients with PUV. Due to mental retardation and other social problems families of patients with Down syndrome may not report the poor urinary stream. Hence patients with Down syndrome may be screened by ultrasonography routinely and if found abnormal may have micturating cystourethrogram (MCU) and referred for further treatment.
References
1. Glassberg KI, Horowitz M. Urethral valve and other anomalies of the male urethra. In Belman AB, King LR, Kramer SA, eds. Clinical Pediatric Urology . 4th edn. Philadelphia; WB Saunders, 2002; pp: 899-945.
2. Brock JW, Adams MC. The male urethra. In Gillenwater JY, Grayhack JT, Howards SS, Mitchell MM, eds. Adult and Pediatric Urology. 4 edn. Philadelphia; WB Saunders, 2002; 2379-2393.
3. Kuperman JC, Stewart CL, Kaskel FJ, Fine RN. Posterior urethral valves in patients with Down Syndrome. Pediatr Nephrol 1996; 10: 143-146.
4. Narasimhan KL, Gupta A. Posterior Urethral valves with Down's Syndrome presenting as Scrotal Urinary Sinuses. Indian Pediatrics (In Press 2004).(Narasimhan KL, Kaur Balpi)