Ectopic Ureter with Seminal Vesicle Insertion in an Infant with Tracheoesophageal Fistula and Possible Adult Polycystic Kidney Disease

Ectopic Ureter with Seminal Vesicle Insertion in an Infant with Tracheoesophageal Fistula and Possible Adult Polycystic Kidney Disease

0022-5347/83/1295-1036$02.00/0 Vol.129, May THE JOURNAL OF U ROLOGY Copyright© 1983 by The Williams & Wilk.ins Co. Printed in U.S.A. ECTOPIC URETE...

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0022-5347/83/1295-1036$02.00/0 Vol.129, May

THE JOURNAL OF U ROLOGY

Copyright© 1983 by The Williams & Wilk.ins Co.

Printed in U.S.A.

ECTOPIC URETER WITH SEMINAL VESICLE INSERTION IN AN INFANT WITH TRACHEOESOPHAGEAL FISTULA AND POSSIBLE ADULT POLYCYSTIC KIDNEY DISEASE L. M. COBB,* E. PANAGIOTOU, A. BOWEN

AND

S. E. PRICEt

From the Department of Pediatric Surgery, Urology Division and Department of Radiology, Children's Hospital of Pittsburgh and Department of Urology, University of Pittsburgh, Pittsburgh, Pennsylvania

ABSTRACT

We report on a male newborn with a tracheoesophageal fistula and possible adult polycystic kidney disease as well as a single ectopic ureter with seminal vesicle insertion. There is an association of tracheoesophageal fistula, hindgut and sacral anomalies with ureteral ectopia but adult polycystic kidney disease has not been described. The diagnostic modalities currently available are discussed, as well as the implications of the association with other anomalies. Rarely is an ectopic ureter with insertion into the seminal vesicle diagnosed in infancy because it is more difficult than in older children and adults. Presenting signs include epididymitis (rare in children), testicular swelling, abdominal mass, urinary tract infection and failure to thrive. 1- 3 Less commonly, it is discovered at inguinal herniorrhaphy. 4 Associated anomalies are quite common. Spina bifida, imperforate anus and tracheoesophageal fistula have all been reported. The ipsilateral kidney and ureter are usually dysplastic. Herein we report a case that represents an association with a tracheoesophageal fistula and possible adult polycystic kidney disease. The radiologic diagnosis of the single ectopic ureter with genital insertion during infancy is discussed as well as the more general embryologic defect involved. CASE REPORT

A male neonate was transferred to our hospital with a distal tracheoesophageal fistula and esophageal atresia. Physical examination was consistent with tracheoesophageal fistula and also revealed an 8 x 10 cm. firm left flank mass. Plain abdominal films showed some abnormal segmentation of the Sl and S2 vertebrae. Primary repair of the tracheoesophageal fistula was done. A sonogram with a 5 MHz. transducer revealed bilaterally enlarged kidneys, the left side larger than the right side. Both kidneys had increased echogenicity suggestive of infantile polycystic kidney disease. Hepatic cysts were not seen. A dilated ureter was not identified but some small sonolucencies suggested cysts or dilated calices, as well as a somewhat dilated renal pelvis on the left side. However, appearance of the right kidney was atypical for infantile polycystic kidney disease in that the normal sonographic distinction between the cortex and medulla was preserved. No such distinction was present in the left kidney. Postoperatively, diarrhea and problems with the gastrostomy developed. The patient finally was discharged from the hospital in reasonably good condition. At that time urine culture and urinalysis were normal, and creatinine and blood urea nitrogen (BUN) were 0.6 and 8, respectively. Because of the difficulties during recovery, further urologic study was deferred. The maternal grandmother and great grandmother had been told that they had 'cysts on the kidneys'. Two maternal uncles and, subsequently, the patient's mother had the diagnosis of Accepted for publication September 3, 1982. * Current address: Department of Pediatric Surgery, St. Christopher's Hospital for Children, 2600 North Lawrence St., Philadelphia, Pennsylvania 19133. t Requests for reprints: 4815 Liberty Ave., Pittsburgh, Pennsylvania 15224.

adult polycystic kidney disease made via an excretory urogram (IVP). The patient did well with normal growth and he had no documented urinary tract infections. He was rehospitalized with bilateral inguinal hernias at age 9½ months and the left flank mass was again noted. No rectal masses were appreciated. The hernias were repaired and an enlarged vas deferens was noted on the left side (fig. 1). Another sonogram was unchanged except for identification of a tortuous, dilated left ureter (fig. 2, A and B). A voiding cystourethrogram was negative. An IVP revealed a normal right collecting system but delayed and poor visualization on the left side. The urine was sterile, and the creatinine and BUN were 0.3 and 19, respectively. An antegrade pyelogram under sonographic control revealed a single ectopic ureter with seminal vesicle insertion and a dysplastic left kidney (fig. 2, C). A technetium-dimercaptosuccinic acid (Tc-DMSA) scan showed 11 per cent of total renal function on the left side. Left nephroureterectomy was performed because the kidney was unsalvable. The ureter was removed at its insertion into the dilated seminal vesicle. The right kidney was not visualized but on palpation it was somewhat enlarged and still had fetal lobulations. No gross cysts or other abnormalities were detected. Gross findings of severe cystic dysplasia and chronic pyelonephritis were confirmed on histologic examination (fig. 3). Biopsy of the right kidney was not done to salvage as much functioning parenchyma as possible and to avoid any complication to the remaining kidney. At followup 8 months postoperatively the boy was doing well with normal growth. Creatinine and BUN were 0. 7 and 10, respectively, when he was 13 months old and he has remained free of infection. DISCUSSION

An association of adult polycystic kidney disease with ectopic ureter and renal dysplasia has not been described previously. Because of the hereditary nature of adult polycystic kidney disease, coexisting ureteral ectopia should be considered a chance association if our patient ultimately proves to have adult polycystic kidney disease. The combination of severe dysplasia (nearly universal with single ectopic ureter) and pyelonephritis in the resected left kidney made adult polycystic kidney disease impossible to diagnose pathologically. However, the marked cystic dysplasia and enlargement of the kidney are unusual in the dysplastic kidney associated with ectopic ureter. The sonographic findings in the right kidney suggested adult polycystic kidney disease, especially considering the pedigree. This kidney exhibited some small, scattered sonolucencies but

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ECTOPIC URETER WITH SEMINAL VESICLE INSERTION IN INFANT

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FIG. 1. Left testis and cord structures at hemiorrhaphy. Arrow indicates dilated vas deferens

FIG. 2. A, sonogram of left kidney and ureter shows dilated renal pelvis (P) and ureter ( U). B, sonogram of right kidney. Small spaces free of echoes may represent tiny cysts. Other sections of left kidney exhibited obvious cysts (not shown) but there were no large cysts in right kidney. Larger sonolucencies are normal medullary pyramids. Right kidney is also slightly enlarged. C, antegrade pyelogram reveals dilated tortuous ureter. Lower arrow indicates junction with dilated seminal vesicle and vas deferens is seen running laterally and inferiorly from there. Upper arrow indicates sunburst effect seen from dilated tubular structures in dysplastic left kidney. Reabsorption and excretion of contrast material in right kidney indicate normal collecting system. Abnormal sacral vertebrae are noted.

no large cysts. Followup will be continued to confirm polycystic kidney disease. Sonography and IVP can demonstrate adult polycystic kidney disease early in life, long before symptoms appear. 5 Multiple sonolucencies of various sizes and bilaterally enlarged kidneys are findings highly suggestive of adult poly-

cystic kidney disease. Hepatic cysts are not necessary to make the diagnosis. Rosenfield and associates advocate childhood sonographic screening of the kindred of affected individuals but in their series all affected children had large, easily recognizable renal cysts. 5

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COBB AND ASSOCIATES

Fm. 3. A, left kidney was 8 X 5 X 5 cm. with multiple fluid-filled cysts disseminated throughout parenchyma. Pelvis was not greatly enlarged, in contrast to dilated dysplastic ureter. Calices could not be identified, although parenchyma was maximally 2.7 cm. in thickness. B, lower power photomicrograph demonstrates cysts of various sizes as well as areas of normal architecture with inflammatory infiltrate. These areas also reveal glomerulocystic change, indicating obstructive process. C, higher magnification shows prominent dysplasia with its mesenchymal stroma and primitive tubules.

The suggestion of polycystic disease actually delayed diagnosis of the ectopic ureter in this child, since dilated ureter, rectal mass, epididymitis or urosepsis was not detected during the initial hospital stay. The sonogram, IVP and voiding cystourethrogram were nondiagnostic even later. The essentials of diagnosis in this case ultimately were the dilated vas at herniorrhaphy and the antegrade pyelogram. In instances when a dilated ureter is found but the insertion and other anatomic features remain obscure an antegrade pyelogram can be of great use as it was in our case. The bizarre 'sunburst' effect in the renal parenchyma (fig. 2, C) was suggestive of infantile polycystic kidney disease but, instead, represented tubular dilatation and cystic dysplasia related to obstruction. The Tc-DMSA scan was not especially helpful in our patient because the left renal unit was an obstructed system. However, in the absence of obstruction the relative function of the dysplastic kidney can be readily assessed with the Tc-DMSA scan. 6 Several authors have commented on the association of ectopic ureter with other anomalies. 1• 3• 7 Cases of ureteral ectopia have been reported in association with tracheoesophageal fistula. 3· 7 The most common associated anomalies are imperforate anus and vertebral spinal defects, as suggested by Prewitt and Lebowitz, 1 and Kesavan and associates. 3 The series of Wiener and Kiesewetter of imperforate anus revealed major urologic anomalies in 28 per cent.8 There is a high association of tracheoesophageal fistula with imperforate anus (10 per cent).9 The VATER syndrome links several anomalies, including tracheo-

esophageal fistula and imperforate anus, vertebral anomalies and renal dysplasia. 10 The conventional embryologic explanation will not be presented in detail. Ureteral ectopy results from malposition of the ureteral bud on the wolffian duct at 4 or 5 weeks of development (4 mm. embryo). 2• 11- 13 This inalposition leads to ectopic placement of the ureteral orifice and impaired induction of the metanephric blastema into the final kidney. However, in light of the other associated anomalies, a more generalized field defect should be considered. Kesavan and associates believe that there may be an over-all defect in perianal-mesenchymal migration. 3 Piekarski and Stephens suggest that the constellation of anomalies reflects generalized damage to mesenchymal tissue at 4 weeks of gestation (4 mm. embryo). 14 Smith, in a careful study of normal embryos as well as 5 with tracheoesophageal fistula, concluded that a generalized defect in epithelial division could bring about the associated anomalies. 15 He suggested that mesenchymal abnormalities may have a passive role. A generalized mesenchymal or epithelial defect would explain a defective ureteral bud and metanephric development as well as the associated anomalies. The usual mode of presentation of single ectopic ureter with seminal vesicle insertion is after infancy, often in adult life. 2• 16- 18 In these patients other anomalies are certainly not apparent. In the infant who proves to have an ectopic ureter other anomalies should be carefully sought. Likewise, infants with esophageal, anal or vertebral anomalies should be evalu-

ECTOPIC URETER WITH SEMINAL VESICLE INSERTION IN INFANT

ated for genitourinary lesions by sonography or IVP because of this possibility of a generalized defect. Sonography is the preferred screening modality in the neonate19 and can be followed with an IVP and/or radioisotope scan, 6 as appropriate, if an abnormality is detected by ultrasound. REFERENCES

1. Prewitt, L. H., Jr. and Lebowitz, R. L.: The single ectopic ureter.

Amer. J. Roentgen., 127: 941, 1976. 2. Schulman, C. C.: The single ectopic ureter. Eur. Urol., 2: 64, 1976. 3. Kesavan, P., Ramakrishnan, M. S. and Fowler, R.: Ectopia in unduplicated ureters in children. Brit. J. Urol., 49: 481, 1977. 4. Jona, J. Z., Glicklich, M. and Cohen, R. D.: Ectopic single ureter and severe renal dysplasia: an unusual presentation. J. Urol., 121: 369, 1979. 5. Rosenfield, A. T., Lipson, M. H., Wolf, B., Taylor, K. S., Rosenfield, N. S. and Hendler, E.: Ultrasonography and nephrotomography in the presymptomatic diagnosis of dominantly inherited (adultonset) polycystic kidney disease. Radiology, 135: 423, 1980. 6. Taylor, A. T., Jr.: Quantitative renal function scanning: a historical and current status report on renal radiopharmaceuticals. Nucl. Med. Ann., p. 303, 1980. 7. Gill, B.: Ureteric ectopy in children. Brit. J. Urol., 52: 257, 1980. 8. Wiener, E. S. and Kiesewetter, W. B.: Urologic abnormalities

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associated with imperforate anus. J. Ped. Surg., 8: 151, 1973. 9. Trusler, G. A. and Wilkinson, R. H.: lmperforate anus: a review of 147 cases. Canad. J. Surg., 5: 269, 1962. 10. Quan, L. and Smith, D. W.: The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J. Ped., 82: 104, 1973. 11. Mogg, R. A.: The single ectopic ureter. Brit. J. Urol., 46: 3, 1974. 12. Mackie, G. G.: Abnormalities of the ureteral bud. Urol. Clin. N. Amer., 5: 161, 1978. 13. Marshall, F. F.: Embryology of the lower genitourinary tract. Urol. Clin. N. Amer., 5: 3, 1978. 14. Piekarski, D. H. and Stephens, F. D.: The association and embryogenesis of tracheo-oesophageal and anorectal anomalies. Prog. Ped. Surg., 9: 63, 1976. 15. Smith, E. I.: The early development of the trachea and esophagus in relation to atresia of the esophagus and tracheoesophageal fistula. Contrib. Embryo!., 35: 43, 1954. 16. Gordon, H. L. and Kessler, R.: Ectopic ureter entering the seminal vesicle associated with renal dysplasia. J. Urol., 108: 389, 1972. 17. Schnitzer, B.: Ectopic ureteral opening into seminal vesicle: a report of four cases. J. Urol., 93: 576, 1965. 18. Keeton, J.E. and Leary, D. J., Jr.: Single ectopic ureter in the male. Urology, 2: 53, 1973. 19. Slovis, T. L. and Perlmutter, A. D.: Recent advances in pediatric urological ultrasound. J. Urol., 123: 613, 1980.