Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience

Maruf, Mahir; Benz, Karl; Jayman, John; Kasprenski, Matthew; Michaud, Jason; Carlo, Heather N. Di; Gearhart, John P.

doi:10.1016/j.urology.2018.10.049

Cited by 13 publications

(4 citation statements)

References 26 publications

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“…While this phenotypic overlap of human CE phenotypes and slc20a1a morphants might be phenotypic overlap by chance, the multitude of affected overlapping organ system is suggestive of a specific effect in slc20a1a morphants. While our G III-IV MO KD phenotype ( Figure 1A) resembles almost all if not all affected organ systems of the human CE phenotype, the milder affected slc20a1a MO zfl (G II) might resemble the broad phenotypic spectrum of BEEC ranging from diastasis of the symphysis only to epispadias, CBE, CE, and rare variants (Maruf et al, 2019).…”

Section: Discussionmentioning

confidence: 78%

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Rieke¹,

Zhang²,

Braun³

et al. 2020

Front. Cell Dev. Biol.

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Section: Discussionmentioning

confidence: 78%

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Rieke¹,

Zhang²,

Braun³

et al. 2020

Front. Cell Dev. Biol.

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“…This was a particularly unique case of complete bladder duplication for a number of reasons. There are approximately 70 described cases of bladder duplication in the literature and most of them have concomitant congenital abnormalities of adjacent embryologic structures as well (1)(2)(3)(4)(5)(6). This being an isolated duplication of the lower urinary tract made its reconstruction less complicated and therefore more likely to be successful.…”

Section: Discussionmentioning

confidence: 99%

“…Bladder duplication is a rare congenital anomaly with relatively few case reports available the literature (1)(2)(3)(4)(5)(6). In most of these, the phenomenon occurs along with other congenital malformations.…”

Section: Introductionmentioning

confidence: 99%

Complete bladder duplication presenting in adulthood: A case report on reconstructive technique and reflections on translational urology in refugees

Abramowitz

Claeys

et al. 2023

Front. Urol.

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Introduction and aim of studyThe bladder-Exstrophy-Epispadias (BEEC) complex is a spectrum of congenital malformations with many variations. A never operated political refugee with BEEC was referred to our center for management upon arrival in Europe. Our aim is to report the technique and outcomes on a never operated on BEEC adult, highlighting the importance of transitional urologic care for congenital malformations in adult patients.Materials and methodsA 27-year old female patient was referred to our center for complete incontinence since birth by the General practitioner from the refugee center who suspected BEEC. Upon further investigation, an exstrophic bladder with blind ending ureteral orifices and a urethral meatus caudal to the exstrophic bladder plate were highlighted. A second non-exstrophic bladder with two orthotopic ureters was demonstrated, thereby a bladder duplication in the sagittal plane was diagnosed, presenting a wide-open bladder neck and a 7 cm pubic diastasis, causing the incontinence she was initially referred for. With the patient in a supine position, laparotomy incision was done with excision of the umbilical scar. The exstrophic bladder plate is dissected caudally. As it presents good detrusor quality, decision is taken to use it as a ventral inlay to augment the non-exstrophic bladder. A Mitchell-type bladder neck reconstruction is performed with a classical fascia sling wrapped around the bladder neck to increase the continence mechanism given the very wide pubic diastasis. Given the risk for hyper-continence, interposition of a continent Mitrofanoff-type vesicostomy is additionally realized. Genital reconstruction is achieved.ResultsOver 1 year post operatively, the patient is completely dry, can holp up to 250ml between catheterization she performs five times per day and once at night. No post-operative complications were observed.ConclusionThe case of one adult patient with a rare urological condition like bladder exstrophy with duplication is presented, illustrating challenges political refugees referred to Europe implicates in terms of surgery regarding congenital malformations in adult patients. A multidisciplinary approach is highly important, demonstrating the importance of transitional care.

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“…This defect occurs in the first trimester when the primitive cloaca separates into the urogenital sinus and hindgut, which coincides with the maturation of the abdominal wall, when the mesenchymal layer does not migrate from the ectoderm and endoderm layers, affecting the cloacal membrane because unstable (broken), a layer of mucus accumulates on the skin. Premature rupture occurs before caudal mesodermal translocation as a result of various infra-umbilical anomalies [ 8 ]. Abnormalities with the development of the pelvic bones are quite different between the symphysis pubis and the outer part of the femur [ 9 ].…”

Section: Reviewmentioning

confidence: 99%

Analyzing the factors that contribute to the development of embryological classical type of bladder exstrophy

Margiana,

Juwita,

Ima

et al. 2023

Anat Cell Biol

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Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination.

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Variant Presentations of the Exstrophy-Epispadias Complex: A 40-Year Experience

Cited by 13 publications

References 26 publications

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

Complete bladder duplication presenting in adulthood: A case report on reconstructive technique and reflections on translational urology in refugees

Analyzing the factors that contribute to the development of embryological classical type of bladder exstrophy

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