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Long-Term Survival in an Infant with Urethral Atresia
0022-534 7/90/1432-0336$02.00 /0 Vol. 143, February
THE JOURNAL OF UROLOGY Copyright© 1990 by AMERICAN UROLOGICAL ASSOCIATION, INC.
Printed in U.S.A.
LONG-TERM SURVIVAL IN AN INFANT WITH URETHRAL ATRESIA GEORGE STEINHARDT, WILLIAM HOGAN, ELLEN WOOD, THOMAS WEBER ROBERT LYNCH
AND
From the Departments of Pediatrics and Surgery, St. Louis University School of Medicine, St. Louis, Missouri
ABSTRACT
Complete urethral atresia is an anomaly that previously was incompatible with life. We report on a surviving infant with this anomaly. As a fetus urinary decompression was accomplished with a vesicoamniotic shunt. Peritoneal dialysis was initiated shortly after birth and at 9 months supramembranous scrotal inlay urethroplasty was performed to provide for egress of urine from the bladder. A maternal renal allograft was performed when he was 12 months old. When the patient was 3½ years old he had normal renal function and emptied the bladder to completion through the reconstructed urethra. Although mildly delayed, he continues to progress with all developmental milestones. (J. Ural., 143: 336-337, 1990) Urethral atresia is found most commonly in association with the prune belly or triad syndrome. 1 - 3 In such cases only infants with an alternative bladder outlet, such as a patent urachus, have survived. 4 - 6 Complete urethral atresia occurring alone 7 or with abdominal distension but no other manifestations of the triad syndrome 8 also results in death if there is no patent urachus. Neonates born with urethral atresia will demonstrate megacystis, hydroureter, hydronephrosis and pulmonary hypoplasia. There will be a history of oligohydramnios and the patient generally will have Potter's facies. There are no reports of survivors with this congenital anomaly. We report on a patient with urethral atresia and without a patent urachus who survived infancy. CASE REPORT
The patient was born in June 1985 to a 29-year-old mother, gravida IV, para 2, abortion 1, who had several hospitalizations for mid trimester bleeding. Maternal ultrasonography demonstrated severe oligohydramnios, bilateral hydronephrosis, megacystis and a fetus small for gestational age. At 30 weeks of gestation a percutaneous vesicoamniotic shunt was placed without complication at a community hospital. At 35 weeks uterine contractions began and ultrasound revealed grade 3 placenta previa. Active labor commenced 1 week later and cesarean section was performed. Apgar scores were 8 and 9. The newborn rapidly manifested nasal flaring, grunting, and moderate intercostal and subcostal retractions. Capillary blood gases on an FI02 of 80% were pH 7.16 (normal 7.34 to 7.46), carbon dioxide pressure 76 mm. Hg (normal 35 to 47) and oxygen pressure 65 mm. Hg (normal 80 to 105). The patient was intubated, given pancuronium bromide and transferred to our hospital in stable condition. Physical examination revealed a 2,870 gm. male neonate with stable vital signs and low set ears. The previously placed vesicoamniotic shunt was in the left mid abdomen and was draining clear fluid. The abdomen was soft but not lax. The testes were descended and no urethral meatus could be appreciated on the penis. A small, anteriorly displaced anal opening was present that would admit only a 5F tube. Both feet were dorsiflexed but there were no deformities of the extremities. A chest x-ray revealed bilateral pneumothoraxes. Abdominal ultrasonography revealed a right kidney of 3.4 cm., a left kidney of 5 cm. and bilateral hydroureteronephrosis. A cystogram was performed by instilling contrast material through the vesicoamniotic shunt (see figure). The bladder appeared to be irregular and cone-shaped. Urinary outflow was obstructed in the prostatic fossa with no apparent hypertrophy of the bladder neck. Accepted for publication June 14, 1989. 336
There also was massive bilateral vesicoureteral reflux and reflux of contrast medium up an ejaculatory duct. During the next 3 days the plasma urea nitrogen and creatinine increased to 36 mg./100 ml. (normal 5 to 15 mg./dl.) and 4.0 mg./100 ml. (normal 0.4 to 0.7 mg./dl.), respectively. On day 4 of life the patient underwent Y -V advancement anoplasty, which placed the anal opening in a normal position, in combination with vesicostomy and placement of a Tenkhoff catheter for peritoneal dialysis. A urethral meatus could not be appreciated. The catheter was removed when he was 8 days old. At 2 weeks the patient underwent gastrostomy placement and bilateral inguinal herniorrhaphy consisting of routine double ligature of large, friable hernia sacs. He was discharged from the hospital when he was 5½ weeks old in stable electrolyte and respiratory condition. Peritoneal dialysis was performed at home for chronic renal failure. Feedings were oral and per gastrostomy tube. When he was 3 months old recurrent inguinal hernia was attributed to the peritoneal dialysis. Repeat herniorrhaphy demonstrated herniation through a dilated internal ring. Repair via ring plasty has prevented recurrence. Cystoscopy via the vesicostomy showed patulous ureteral orifices and a blind-ending dilated prostatic urethra. No folds or valves were identified and passage of a 3F ureteral catheter also did not demonstrate a urethral lumen. When he was 9 months old supramembranous scrotal inlay urethroplasty and closure of the vesicostomy were done to prepare the urinary tract for renal transplantation. At operation the patient had complete obliteration of the urethra in the area of the urogenital diaphragm. Distally the urethra was present but it could only be demonstrated by passing a lacrimal duct probe in an antegrade direction from the perineal location. Bilateral nephrectomy and transplantation of renal allograft from the mother were performed when he was 1 year old. Pathological examination of the kidneys revealed small size and extensive dysplasia. The gastrostomy site was closed when he was 13 months old. At 40 months he was maintained on cyclosporine, prednisone and prophylactic antibiotics without signs of graft rejection. Serum creatinine ranged from 0.3 to 0.4 mg./100 ml. (27 to 35 µmol./1.). He voids to completion through the perineal urethrostomy but has not yet been toilet trained. Developmental assessment was performed when the patient was 3 years old, and he was age appropriate for language comprehension, and visual recognition and integration. He was mildly (6 to 12 months) delayed for articulation and over-all use of speech. Motor skills were grossly appropriate. DISCUSSION
The fetus is becoming an increasingly accessible patient. With recent advances in obstetric ultrasonography fetal anom-
A, cystogram obtained through vesicoamniotic shunt demonstrates massive bilateral vesicoureteral reflux, B, funneled bladder neck, blindending prostatic urethra and reflux up ejaculatory duct are apparent,
alies, such as hydronephrosis and m,,u,,r,,'"''~ can be identified as early as 15 to 18 weeks of surgical technique, us,~ucov·,w and open, 12 has led to fetal urological intervention as early as 21 weeks of sonographic findings of oligohydramnios with and bilateral hydronephrosis are considered to be absolute requirements for prenatal urological intervention and were present in our patient at 30 weeks of gestation, The vesicoamniotic shunt was effective in re-establishing normal amnwtic fluid volume but there was no effect on ultimate renal function, It is possible that the restoration of normai amniotic fluid volume had a beneficial effect on µv:;ci,rnua function but this is speculativeo However, the coordination of urological decompression, management of renal failure from birth, urethral reconstruction and renal gether resulted in survival with a conditior. patible with life. CONCLUSKON
We report a case urachus in a n1egac~ystis and bilateral hHrl~,"noA+,o~rrn and a vesicoamniotic shunt was placed at 30 weeks of """11Luu11. The initial urinary urine output 'Nas aL,coavace,, little renal function was pressnt and peritoneal dialysis was initiated in the neonatal which successfully ,-,,Ao,~Arl the patient u1ctil was possible. The primary anatomical ua,,-,,.~,o,~ ocally confirmed at vesicostomy closure and scrotal inlay urethroplasty demonstration of obliteration of the urethra at the level of the membranous urethra. The distal urethra was present but diminutive. We believe that this is the first case of supramembranous scrotal inlay urethroplasty performed for complete urethral atresia,
case. REFERENCES
L. Vv. and Ostrow, P, T.: The
L
20 cases and description of a
belly syndrome: report variant. J. Ped.i 83: 786,
1973, 20 Kroovand, R L,, Al-Ansari, R fv'L and Perlmutter, A, D,: Urethral and genital malformations in prune belly syndrome. J. Urol., 127: 94, 1982. 30 Altshuler, G. A, Light, L J, and Sutherland, J, syndrome associated with Potter (renal nonAmer. J, Dis. Child,, 131: 672, 1977. 4, Symonds, D, and Driscoll, S, G,: Massive fetal ascites, urethral atresia, and cyto~n1egalic inclusion disease. Am_er. J. Dis, Child., 127: 895, 1974, 5, R. A,: Congenital anomalies of the urethra. Brit, UroL, 638, 1968, 60 Pagon, R. A,, Smith, D, W. and Shepard, T, R: Urethral obstruction malformation a cause of abdominal muscle deficiency and the J. Ped., 900, 1979. Harr]son, IVI. R. A., Parer) J. T., Faer, J-., Jacobson, B. and de Lo:rimier, A. A.: of the fetus with a 'Jrinary tract r.nalformatio:r;_. 635 1981. R RB.liS) Z. aLd. Forbesi IV:L: Intra-uteTine atrophy aDd "- •0 ,, ~··~ of the 1
1
J.ower
of the fetus caused by m_ega-systis
atresia, J, 104: 31, 197L S. Bellinger, lvI. F.) Com_stock, C. H., Grosso, D. and Zaino, R.: Fetal posterior u_rethral valves and :ren.a.l dysplc.sia 15 v,1eeks gestational 12as) 1983. Diamond, 0c111u,ei;,, FL and iJe:ffs) R,. D.: Fetal hydronephrosis: considerations regarding urclogical intervention. J. Urol.) 131: 1155, 1984, lL Golbus, M, S,, Harrison, lVL R, Filly, R A., Callen, P, and Katz, iVL: In utero treatment of tirinary tract obstruction. An1eL J, Obst, Gynec., 142: 383, 1982. 12. Harrison, NL R, Golbus, M. Callen, P, W,, Katz, IVL, de Lorimier, A, and A, R: Fetal surgery for congenital hyctr,on,ephrosi1s. New EngL J. Med,, 306: 591, 1982,
THE JOURNAL OF UROLOGY Copyright© 1990 by AMERICAN UROLOGICAL ASSOCIATION, INC.
Printed in U.S.A.
LONG-TERM SURVIVAL IN AN INFANT WITH URETHRAL ATRESIA GEORGE STEINHARDT, WILLIAM HOGAN, ELLEN WOOD, THOMAS WEBER ROBERT LYNCH
AND
From the Departments of Pediatrics and Surgery, St. Louis University School of Medicine, St. Louis, Missouri
ABSTRACT
Complete urethral atresia is an anomaly that previously was incompatible with life. We report on a surviving infant with this anomaly. As a fetus urinary decompression was accomplished with a vesicoamniotic shunt. Peritoneal dialysis was initiated shortly after birth and at 9 months supramembranous scrotal inlay urethroplasty was performed to provide for egress of urine from the bladder. A maternal renal allograft was performed when he was 12 months old. When the patient was 3½ years old he had normal renal function and emptied the bladder to completion through the reconstructed urethra. Although mildly delayed, he continues to progress with all developmental milestones. (J. Ural., 143: 336-337, 1990) Urethral atresia is found most commonly in association with the prune belly or triad syndrome. 1 - 3 In such cases only infants with an alternative bladder outlet, such as a patent urachus, have survived. 4 - 6 Complete urethral atresia occurring alone 7 or with abdominal distension but no other manifestations of the triad syndrome 8 also results in death if there is no patent urachus. Neonates born with urethral atresia will demonstrate megacystis, hydroureter, hydronephrosis and pulmonary hypoplasia. There will be a history of oligohydramnios and the patient generally will have Potter's facies. There are no reports of survivors with this congenital anomaly. We report on a patient with urethral atresia and without a patent urachus who survived infancy. CASE REPORT
The patient was born in June 1985 to a 29-year-old mother, gravida IV, para 2, abortion 1, who had several hospitalizations for mid trimester bleeding. Maternal ultrasonography demonstrated severe oligohydramnios, bilateral hydronephrosis, megacystis and a fetus small for gestational age. At 30 weeks of gestation a percutaneous vesicoamniotic shunt was placed without complication at a community hospital. At 35 weeks uterine contractions began and ultrasound revealed grade 3 placenta previa. Active labor commenced 1 week later and cesarean section was performed. Apgar scores were 8 and 9. The newborn rapidly manifested nasal flaring, grunting, and moderate intercostal and subcostal retractions. Capillary blood gases on an FI02 of 80% were pH 7.16 (normal 7.34 to 7.46), carbon dioxide pressure 76 mm. Hg (normal 35 to 47) and oxygen pressure 65 mm. Hg (normal 80 to 105). The patient was intubated, given pancuronium bromide and transferred to our hospital in stable condition. Physical examination revealed a 2,870 gm. male neonate with stable vital signs and low set ears. The previously placed vesicoamniotic shunt was in the left mid abdomen and was draining clear fluid. The abdomen was soft but not lax. The testes were descended and no urethral meatus could be appreciated on the penis. A small, anteriorly displaced anal opening was present that would admit only a 5F tube. Both feet were dorsiflexed but there were no deformities of the extremities. A chest x-ray revealed bilateral pneumothoraxes. Abdominal ultrasonography revealed a right kidney of 3.4 cm., a left kidney of 5 cm. and bilateral hydroureteronephrosis. A cystogram was performed by instilling contrast material through the vesicoamniotic shunt (see figure). The bladder appeared to be irregular and cone-shaped. Urinary outflow was obstructed in the prostatic fossa with no apparent hypertrophy of the bladder neck. Accepted for publication June 14, 1989. 336
There also was massive bilateral vesicoureteral reflux and reflux of contrast medium up an ejaculatory duct. During the next 3 days the plasma urea nitrogen and creatinine increased to 36 mg./100 ml. (normal 5 to 15 mg./dl.) and 4.0 mg./100 ml. (normal 0.4 to 0.7 mg./dl.), respectively. On day 4 of life the patient underwent Y -V advancement anoplasty, which placed the anal opening in a normal position, in combination with vesicostomy and placement of a Tenkhoff catheter for peritoneal dialysis. A urethral meatus could not be appreciated. The catheter was removed when he was 8 days old. At 2 weeks the patient underwent gastrostomy placement and bilateral inguinal herniorrhaphy consisting of routine double ligature of large, friable hernia sacs. He was discharged from the hospital when he was 5½ weeks old in stable electrolyte and respiratory condition. Peritoneal dialysis was performed at home for chronic renal failure. Feedings were oral and per gastrostomy tube. When he was 3 months old recurrent inguinal hernia was attributed to the peritoneal dialysis. Repeat herniorrhaphy demonstrated herniation through a dilated internal ring. Repair via ring plasty has prevented recurrence. Cystoscopy via the vesicostomy showed patulous ureteral orifices and a blind-ending dilated prostatic urethra. No folds or valves were identified and passage of a 3F ureteral catheter also did not demonstrate a urethral lumen. When he was 9 months old supramembranous scrotal inlay urethroplasty and closure of the vesicostomy were done to prepare the urinary tract for renal transplantation. At operation the patient had complete obliteration of the urethra in the area of the urogenital diaphragm. Distally the urethra was present but it could only be demonstrated by passing a lacrimal duct probe in an antegrade direction from the perineal location. Bilateral nephrectomy and transplantation of renal allograft from the mother were performed when he was 1 year old. Pathological examination of the kidneys revealed small size and extensive dysplasia. The gastrostomy site was closed when he was 13 months old. At 40 months he was maintained on cyclosporine, prednisone and prophylactic antibiotics without signs of graft rejection. Serum creatinine ranged from 0.3 to 0.4 mg./100 ml. (27 to 35 µmol./1.). He voids to completion through the perineal urethrostomy but has not yet been toilet trained. Developmental assessment was performed when the patient was 3 years old, and he was age appropriate for language comprehension, and visual recognition and integration. He was mildly (6 to 12 months) delayed for articulation and over-all use of speech. Motor skills were grossly appropriate. DISCUSSION
The fetus is becoming an increasingly accessible patient. With recent advances in obstetric ultrasonography fetal anom-
A, cystogram obtained through vesicoamniotic shunt demonstrates massive bilateral vesicoureteral reflux, B, funneled bladder neck, blindending prostatic urethra and reflux up ejaculatory duct are apparent,
alies, such as hydronephrosis and m,,u,,r,,'"''~ can be identified as early as 15 to 18 weeks of surgical technique, us,~ucov·,w and open, 12 has led to fetal urological intervention as early as 21 weeks of sonographic findings of oligohydramnios with and bilateral hydronephrosis are considered to be absolute requirements for prenatal urological intervention and were present in our patient at 30 weeks of gestation, The vesicoamniotic shunt was effective in re-establishing normal amnwtic fluid volume but there was no effect on ultimate renal function, It is possible that the restoration of normai amniotic fluid volume had a beneficial effect on µv:;ci,rnua function but this is speculativeo However, the coordination of urological decompression, management of renal failure from birth, urethral reconstruction and renal gether resulted in survival with a conditior. patible with life. CONCLUSKON
We report a case urachus in a n1egac~ystis and bilateral hHrl~,"noA+,o~rrn and a vesicoamniotic shunt was placed at 30 weeks of """11Luu11. The initial urinary urine output 'Nas aL,coavace,, little renal function was pressnt and peritoneal dialysis was initiated in the neonatal which successfully ,-,,Ao,~Arl the patient u1ctil was possible. The primary anatomical ua,,-,,.~,o,~ ocally confirmed at vesicostomy closure and scrotal inlay urethroplasty demonstration of obliteration of the urethra at the level of the membranous urethra. The distal urethra was present but diminutive. We believe that this is the first case of supramembranous scrotal inlay urethroplasty performed for complete urethral atresia,
case. REFERENCES
L. Vv. and Ostrow, P, T.: The
L
20 cases and description of a
belly syndrome: report variant. J. Ped.i 83: 786,
1973, 20 Kroovand, R L,, Al-Ansari, R fv'L and Perlmutter, A, D,: Urethral and genital malformations in prune belly syndrome. J. Urol., 127: 94, 1982. 30 Altshuler, G. A, Light, L J, and Sutherland, J, syndrome associated with Potter (renal nonAmer. J, Dis. Child,, 131: 672, 1977. 4, Symonds, D, and Driscoll, S, G,: Massive fetal ascites, urethral atresia, and cyto~n1egalic inclusion disease. Am_er. J. Dis, Child., 127: 895, 1974, 5, R. A,: Congenital anomalies of the urethra. Brit, UroL, 638, 1968, 60 Pagon, R. A,, Smith, D, W. and Shepard, T, R: Urethral obstruction malformation a cause of abdominal muscle deficiency and the J. Ped., 900, 1979. Harr]son, IVI. R. A., Parer) J. T., Faer, J-., Jacobson, B. and de Lo:rimier, A. A.: of the fetus with a 'Jrinary tract r.nalformatio:r;_. 635 1981. R RB.liS) Z. aLd. Forbesi IV:L: Intra-uteTine atrophy aDd "- •0 ,, ~··~ of the 1
1
J.ower
of the fetus caused by m_ega-systis
atresia, J, 104: 31, 197L S. Bellinger, lvI. F.) Com_stock, C. H., Grosso, D. and Zaino, R.: Fetal posterior u_rethral valves and :ren.a.l dysplc.sia 15 v,1eeks gestational 12as) 1983. Diamond, 0c111u,ei;,, FL and iJe:ffs) R,. D.: Fetal hydronephrosis: considerations regarding urclogical intervention. J. Urol.) 131: 1155, 1984, lL Golbus, M, S,, Harrison, lVL R, Filly, R A., Callen, P, and Katz, iVL: In utero treatment of tirinary tract obstruction. An1eL J, Obst, Gynec., 142: 383, 1982. 12. Harrison, NL R, Golbus, M. Callen, P, W,, Katz, IVL, de Lorimier, A, and A, R: Fetal surgery for congenital hyctr,on,ephrosi1s. New EngL J. Med,, 306: 591, 1982,