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Varying Degrees of Ureteral Ectopia and Duplication in 5 Siblings
Vol. 110, October Printed in U.S.A.
THE JOURNAL OF UROLOGY
Copyright © 1973 by The Williams & Wilkins Co.
VARYING DEGREES OF URETERAL ECTOPIA AND DUPLICATION IN 5 SIBLINGS BERNARD C. MUSSELMAN
AND
JAMES J. BARRY
From the Hepburn Hospital, Ogdensburg, New York
The cause of ureteral ectopia is unknown but it is often assumed to be an error in embryonic development. In 1967 DeWeerd reported on ureteral ectopia in a mother and child and suggested that the cause of this anomaly might be genetic.' We report
CASE REPORTS
Case 1. A 4-year-old white girl had urinary incontinence since birth. Excretory urography (IVP) showed a double collecting system on the
IVPs. A, case 1, 4-year-old girl. B, case 2, 2-year-old sister of case 1. C, 11-year-old brother. D, 15-year-old brother. E, 18-year-old brother.
herein on 5 siblings with ureteral ectopia and offer an explanation of the genetic relationship. Accepted for publication April 6, 1973. 1 DeWeerd, J. H. and Feeney, D. P.: Bilateral ureteral ectopia with urinary incontinence in a mother and daughter. J. Urol., 98: 335, 1967.
right side (part A of figure). Cystoscopy revealed a left ectopic ureter emptying below the sphincter into the urethra, a right ectopic ureter emptying into the urethra just above the sphincter and a right and a left normally situated ureter. The upper segment duplication on the left side was not
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URETERAL ECTOPIA AND DUPLICA'fION IN 5 SIBLINGS
illustrated on IVP but was seen on a retrograde pyelogram. Case 2. The 2-year-old sister of the patient in case 1 was seen for urinary incontinence a year after her sister was first examined. IVP showed duplication on the right side with hydroureter of the lower segment, a large ureterocele in the distended bladder and hydrometer of the visualized upper segment on the left side (part B of figure). The normal left lower segment was not visualized on the 2-hour film. Cystoscopy revealed 2 ureteral openings on the right side and 2 on the left side. All openings were above the sphincter. There was a large ureterocele in relation to the left ectopic ureter. Comment. In view of the findings in these 2 children, their brothers and parents were examined. IVPs in the parents were normal but IVPs in the 3 asymptomatic brothers showed abnormalities. The 11-year-old brother had bilateral upper segment duplication with the ureters joining at L3 to L4 (part C of figure). The 15-year-old brother had duplication on the left side with ureters joining at the level of L3 to L4 (part D of figure). The 18-year-old brother had 2 left renal pelves joining to form 1 ureter (part E of figure).
477
wolffian duct tissue extends to the verumontanum, so that the opening cannot be distal to the external sphincter. It may however open into the seminal vesicle." 2 Our experience supports DeWeerd's suggestion that ureteral ectopia and duplication are familial and indicates that the milder form of the anomaly in the male subject is a manifestation of the same genetic malformation in the female subject because it appears in brothers and sisters. Our cases also suggest that ureteral ectopia is a sexinfluenced autosomal dominant disease. The odds of producing 5 affected siblings in 1 family are strongly in favor of a dominant mode of inheritance instead of recessive transmission. The odds for dominant inheritance in this family are 1 to 32 and the odds for recessive inheritance are 1 to 1,024. The evidence that this disease is sex-influenced and is mild in the male patient and severe in the female patient is supported by the fact that it is recognized 4 times as often in the female subject and that female subjects often have incontinence, while male subjects do not. In our report the father, who is the presumed carrier, was not affected and the brothers were only mildly affected.
DISCUSSION
It is known that ureteral ectopia is milder and occurs less often in male than in female subjects. Benson and associates reported that, "In the female, in whom it is 4 times more common (or at least detected that much more often), the ectopic orifice usually opens within the effective range of the sphincter, but if it opens outside along the course of Gartner's duct, incontinence will result. Incontinence does not occur in the male since the
SUMMARY
Five siblings with some degree of ureteral ectopia and duplication are reported. The cause of this error in morphogenesis is unknown. Evidence is presented that the cause in some cases is genetic. 2 Benson, C. D., Mustard, W. T., Ravitch, M. M., Snyder, W. H., Jr. and Welch, K. J.: Pediatric Surgery. Chicago: Year Book Medical Publishers, Inc., p. 962, 1962.
THE JOURNAL OF UROLOGY
Copyright © 1973 by The Williams & Wilkins Co.
VARYING DEGREES OF URETERAL ECTOPIA AND DUPLICATION IN 5 SIBLINGS BERNARD C. MUSSELMAN
AND
JAMES J. BARRY
From the Hepburn Hospital, Ogdensburg, New York
The cause of ureteral ectopia is unknown but it is often assumed to be an error in embryonic development. In 1967 DeWeerd reported on ureteral ectopia in a mother and child and suggested that the cause of this anomaly might be genetic.' We report
CASE REPORTS
Case 1. A 4-year-old white girl had urinary incontinence since birth. Excretory urography (IVP) showed a double collecting system on the
IVPs. A, case 1, 4-year-old girl. B, case 2, 2-year-old sister of case 1. C, 11-year-old brother. D, 15-year-old brother. E, 18-year-old brother.
herein on 5 siblings with ureteral ectopia and offer an explanation of the genetic relationship. Accepted for publication April 6, 1973. 1 DeWeerd, J. H. and Feeney, D. P.: Bilateral ureteral ectopia with urinary incontinence in a mother and daughter. J. Urol., 98: 335, 1967.
right side (part A of figure). Cystoscopy revealed a left ectopic ureter emptying below the sphincter into the urethra, a right ectopic ureter emptying into the urethra just above the sphincter and a right and a left normally situated ureter. The upper segment duplication on the left side was not
476
URETERAL ECTOPIA AND DUPLICA'fION IN 5 SIBLINGS
illustrated on IVP but was seen on a retrograde pyelogram. Case 2. The 2-year-old sister of the patient in case 1 was seen for urinary incontinence a year after her sister was first examined. IVP showed duplication on the right side with hydroureter of the lower segment, a large ureterocele in the distended bladder and hydrometer of the visualized upper segment on the left side (part B of figure). The normal left lower segment was not visualized on the 2-hour film. Cystoscopy revealed 2 ureteral openings on the right side and 2 on the left side. All openings were above the sphincter. There was a large ureterocele in relation to the left ectopic ureter. Comment. In view of the findings in these 2 children, their brothers and parents were examined. IVPs in the parents were normal but IVPs in the 3 asymptomatic brothers showed abnormalities. The 11-year-old brother had bilateral upper segment duplication with the ureters joining at L3 to L4 (part C of figure). The 15-year-old brother had duplication on the left side with ureters joining at the level of L3 to L4 (part D of figure). The 18-year-old brother had 2 left renal pelves joining to form 1 ureter (part E of figure).
477
wolffian duct tissue extends to the verumontanum, so that the opening cannot be distal to the external sphincter. It may however open into the seminal vesicle." 2 Our experience supports DeWeerd's suggestion that ureteral ectopia and duplication are familial and indicates that the milder form of the anomaly in the male subject is a manifestation of the same genetic malformation in the female subject because it appears in brothers and sisters. Our cases also suggest that ureteral ectopia is a sexinfluenced autosomal dominant disease. The odds of producing 5 affected siblings in 1 family are strongly in favor of a dominant mode of inheritance instead of recessive transmission. The odds for dominant inheritance in this family are 1 to 32 and the odds for recessive inheritance are 1 to 1,024. The evidence that this disease is sex-influenced and is mild in the male patient and severe in the female patient is supported by the fact that it is recognized 4 times as often in the female subject and that female subjects often have incontinence, while male subjects do not. In our report the father, who is the presumed carrier, was not affected and the brothers were only mildly affected.
DISCUSSION
It is known that ureteral ectopia is milder and occurs less often in male than in female subjects. Benson and associates reported that, "In the female, in whom it is 4 times more common (or at least detected that much more often), the ectopic orifice usually opens within the effective range of the sphincter, but if it opens outside along the course of Gartner's duct, incontinence will result. Incontinence does not occur in the male since the
SUMMARY
Five siblings with some degree of ureteral ectopia and duplication are reported. The cause of this error in morphogenesis is unknown. Evidence is presented that the cause in some cases is genetic. 2 Benson, C. D., Mustard, W. T., Ravitch, M. M., Snyder, W. H., Jr. and Welch, K. J.: Pediatric Surgery. Chicago: Year Book Medical Publishers, Inc., p. 962, 1962.