ABSTRACT
Ureteroceles are cystic dilations of the intravesical submucosal ureter. Most cases are associated with complete ureteral and renal duplication, and association with ureterohydronephrosis is frequent. The authors describe the 4 cases of fetal ureterocele diagnosed from March 2008 to March 2012. Mean gestational age at diagnosis was 23 weeks (16-34 weeks). One of 4 cases progressed to severe hydronephrosis with megacystis and was referred to a Fetal Medicine Center for fetoscopy and laser ureterocelotomy. The remaining 3 cases did not need fetal therapy. Mean gestational age at delivery was 37 weeks. One case abandoned follow-up; 2 children were submitted to cystoscopic ureterocele incision and the child submitted to fetal therapy needed heminephrectomy due to recurrent urinary tract infections. In those 3 cases renal function was preserved. When a fetal ureterocele is diagnosed, close sonographic surveillance should be offered to monitor the possible urinary tract obstruction and assess the need for prenatal intervention. Fetal diagnosis is important to program the timing of delivery and postnatal care.
Subject(s)
Fetal Diseases/diagnostic imaging , Ureterocele/diagnostic imaging , Adult , Female , Fetal Diseases/genetics , Fetal Diseases/therapy , Humans , Infant, Newborn , Karyotype , Male , Pregnancy , Prenatal Diagnosis , Ultrasonography , Ureterocele/genetics , Ureterocele/therapySubject(s)
Abnormalities, Multiple/diagnostic imaging , Fingers/abnormalities , Hand Deformities, Congenital/diagnostic imaging , Image Processing, Computer-Assisted/methods , Imaging, Three-Dimensional/methods , Ultrasonography, Prenatal/methods , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Abortion, Eugenic , Chromosome Aberrations , Chromosomes, Human, Pair 7 , Cleft Palate/diagnostic imaging , Cleft Palate/genetics , Cleft Palate/pathology , Female , Fingers/diagnostic imaging , Fingers/pathology , Genetic Heterogeneity , Hand Deformities, Congenital/genetics , Hand Deformities, Congenital/pathology , Humans , Infant, Newborn , Kidney/abnormalities , Kidney/diagnostic imaging , Phenotype , Polycystic Kidney Diseases/diagnostic imaging , Polycystic Kidney Diseases/genetics , Polycystic Kidney Diseases/pathology , Pregnancy , Syndactyly/diagnostic imaging , Syndactyly/genetics , Syndactyly/pathology , Ureterocele/diagnostic imaging , Ureterocele/genetics , Ureterocele/pathology , Young AdultABSTRACT
In the pediatric population, ureteroceles may present with different clinical pictures, and the severity of the renal damage is greater than in adults. Ureterocele, an anomaly of ureteric budding, is likely a component of a spectrum of anomalies including vesicoureteral reflux and ureteral duplications. Both have been confirmed to have a genetic and familial basis. We document the largest series of familial cases of ureteroceles, giving evidence for genetic background. We retrospectively reviewed the charts of patients with familial ureteroceles seen between 1992 and 2002. Coexisting ureteral anomalies and features of the cases were documented and compared to sporadic cases and all familial cases within the literature. This is the largest series of familial ureterocele patients in the literature. The review of the literature revealed seven publications with seven ureterocele families (15 affected patients) between 1936 and 2002. Comparing sex, ureterocele location, and single versus duplex systems, familial series are similar to other sporadic cases. Three of the families have twin siblings with ureteroceles. Familial cases, despite their rarity, raise the issue of the genetic origin of uretereoceles. Family members of ureterocele cases should be informed and followed carefully, especially twins. Increased reporting and genetic analysis of familial ureteroceles may prove to link the genetic mouse models of abnormal ureteric budding to the human conditions.
Subject(s)
Family , Ureterocele/genetics , Adult , Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Retrospective Studies , Ureterocele/pathologyABSTRACT
We studied a family in which the father and his two daughters had ureteroceles involving the upper half of a duplex system. Our report gives additional evidence for the genetic background of ureteroceles.
Subject(s)
Ureter/abnormalities , Ureterocele/complications , Ureterocele/genetics , Adult , Child, Preschool , Female , Humans , Infant , MaleABSTRACT
Double ureter is a frequent congenital malformation and the presence of a ureterocele on the ureter draining the superior renal pelvis is a not exceptional association. The abnormality is usually diagnosed in children by intravenous urography or ultrasound. It is extremely rare to find such a lesion in different members of the same family, as only a few cases have been published in the literature. Our case is original in that three members of the family presented the abnormality and it was the father who was affected, rather than the mother, as in the cases reported in the other two publications.
Subject(s)
Ureter/abnormalities , Ureterocele/genetics , Adolescent , Adult , Female , Humans , Male , Middle Aged , Tomography, X-Ray Computed , Ureter/surgery , Ureterocele/diagnosis , Ureterocele/surgery , UrographyABSTRACT
In the pediatric population, ureteroceles may present with different clinical pictures, including obstruction and lithiasis. We report two pairs of twins; one of each set had ureteroceles, and the other a related urinary tract malformation (ureterocele, polycystic kidney disease). These cases raise the question of whether the siblings of children with ureteroceles should be screened for urogenital abnormalities.
Subject(s)
Diseases in Twins , Ureterocele/congenital , Ureterocele/diagnostic imaging , Child , Female , Humans , Infant , Male , Ultrasonography , Ureterocele/geneticsABSTRACT
We describe three pregnancies that presented with renal anomalies on obstetric ultrasound as the main abnormality and were subsequently found to have interstitial deletions within chromosome 22q11. A cardiac defect, double-outlet right ventricle, was also seen in the first case. Amnio infusion was refused in the second pregnancy and the perimembranous ventricular septal defect was not identified prior to termination. In the third case, there was no cardiac defect. The genitourinary abnormalities were a right hydroureter and hydronephrosis with a ureterocele bulging into the bladder lumen, bilateral multicystic kidneys with associated oligohydramnios, and a left multicystic kidney with right renal agenesis and associated oligohydramnios. Absence of thymus at autopsy in all three cases led to fluorescent in situ hybridization studies looking for the submicroscopic deletion of chromosome 22q11 associated with DiGeorge syndrome.
Subject(s)
DiGeorge Syndrome/diagnostic imaging , Fetal Diseases/diagnostic imaging , Kidney/abnormalities , Kidney/diagnostic imaging , Ultrasonography, Prenatal/methods , Adolescent , Adult , Chromosomes, Human, Pair 22 , DiGeorge Syndrome/genetics , Female , Fetal Diseases/genetics , Gene Deletion , Heart Ventricles/abnormalities , Humans , In Situ Hybridization , Karyotyping , Oligohydramnios/diagnostic imaging , Pregnancy , Thymus Gland/abnormalities , Ureterocele/diagnostic imaging , Ureterocele/genetics , Urinary Bladder/abnormalitiesSubject(s)
Agenesis of Corpus Callosum , Ureterocele/genetics , Child , Humans , Male , Ureterocele/complicationsABSTRACT
We report on 2 siblings with simple ureteroceles. A simple ureterocele associated with a single ureter is encountered less frequently than an ectopic ureterocele in children. The severity of associated ureterectasis and hydronephrosis is generally greater than in adults.
Subject(s)
Ureterocele/genetics , Adolescent , Humans , Hydronephrosis/complications , Male , Ureter/abnormalities , Ureteral Diseases/complications , Ureterocele/complicationsABSTRACT
Nonidentical twins with ectopic ureteroceles, and duplication of the urinary collecting system in two more members of the same family are described. This incidence may indicate that inborn anomalies of the urinary tract may have a genetic background.
Subject(s)
Diseases in Twins , Ureterocele/genetics , Female , Humans , Infant, Newborn , Male , Pedigree , Pregnancy , Twins, Dizygotic , Ureterocele/congenitalSubject(s)
Ureter/abnormalities , Ureterocele/genetics , Female , Humans , Pedigree , Ureterocele/embryologyABSTRACT
Of 37 adult patients with ureteroceles, 13 also had calculous disease (35 per cent). Of these 13 cases 7 had single ureters and 6 had duplicated ones. None had a metabolic or urinary abnormality such as hypercalcemia, gout, hypercalciuria or hyperuricuria. Two of the patients were a mother and daugher--the first reported familial incidence of ureterocele with calculous disease. A surgical technique is described for removal of the calculus, excision of the ureterocele and reimplantation of the ureter. The procedure was used in 4 of the 7 patients with single ureters, while the stone passed spontaneously in 2 patients and was treated by ureterolithotomy in 1. A modification of the technique was used in 2 of the 6 patients with duplicated ureters but other surgical procedures were used in the remaining 4. Of 10 stones that were analyzed 2 were struvite and none contained cystine or uric acid. Long-term followup is a requisite to assure control of this clinical entity.