Literature DB >> 19161161

Bladder exstrophy-epispadias complex.

Michael Ludwig1, Bonnie Ching, Heiko Reutter, Simeon A Boyadjiev.   

Abstract

The bladder exstrophy-epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current state of knowledge on this multifactorial disorder, including historical retrospect, phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered.

Entities:  

Mesh：

Year:  2009        PMID： 19161161     DOI： 10.1002/bdra.20557

Source DB:  PubMed          Journal:  Birth Defects Res A Clin Mol Teratol        ISSN： 1542-0752


  15 in total

Review 1.  Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

Authors:  Csaba Siffel; Adolfo Correa; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Sebastiano Bianca; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Lisa K Marengo; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anna Pierini; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Richard S Olney
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

2.  Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Authors:  Heiko Reutter; Markus Draaken; Tracie Pennimpede; Lars Wittler; Felix F Brockschmidt; Anne-Karolin Ebert; Enrika Bartels; Wolfgang Rösch; Thomas M Boemers; Karin Hirsch; Eberhard Schmiedeke; Christian Meesters; Tim Becker; Raimund Stein; Boris Utsch; Elisabeth Mangold; Agneta Nordenskjöld; Gillian Barker; Christina Clementsson Kockum; Nadine Zwink; Gundula Holmdahl; Göran Läckgren; Ekkehart Jenetzky; Wouter F J Feitz; Carlo Marcelis; Charlotte H W Wijers; Iris A L M Van Rooij; John P Gearhart; Bernhard G Herrmann; Michael Ludwig; Simeon A Boyadjiev; Markus M Nöthen; Manuel Mattheisen
Journal:  Hum Mol Genet       Date:  2014-05-22       Impact factor: 6.150

3.  Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy.

Authors:  Rong Zhang; Michael Knapp; Franziska Kause; Heiko Reutter; Michael Ludwig
Journal:  J Pediatr Genet       Date:  2017-04-21

4.  Body contouring abdominoplasty for augmentation enterocystoplasty with continent cutaneous urinary diversion in an obese adolescent patient: A case report.

Authors:  Joachim N Meuli; Nuno Grilo; Beat Roth; Pietro G di Summa
Journal:  Urol Case Rep       Date:  2022-07-04

Review 5.  Lower urinary tract development and disease.

Authors:  Hila Milo Rasouly; Weining Lu
Journal:  Wiley Interdiscip Rev Syst Biol Med       Date:  2013-02-13

6.  Exstrophy-Epispadias Complex Variants: A Hybrid Case.

Authors:  Alba Ganarin; Michele Corroppolo; Giosuè Mazzero; Clara Revetria; Fabio Beretta; Enrico Ciardini
Journal:  Pediatr Rep       Date:  2021-04-07

7.  Genetic analysis of Hedgehog signaling in ventral body wall development and the onset of omphalocele formation.

Authors:  Daisuke Matsumaru; Ryuma Haraguchi; Shinichi Miyagawa; Jun Motoyama; Naomi Nakagata; Frits Meijlink; Gen Yamada
Journal:  PLoS One       Date:  2011-01-20       Impact factor: 3.240

Review 8.  The exstrophy-epispadias complex.

Authors:  Anne-Karoline Ebert; Heiko Reutter; Michael Ludwig; Wolfgang H Rösch
Journal:  Orphanet J Rare Dis       Date:  2009-10-30       Impact factor: 4.123

9.  Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.

Authors:  Markus Draaken; Michael Knapp; Tracie Pennimpede; Johanna M Schmidt; Anne-Karolin Ebert; Wolfgang Rösch; Raimund Stein; Boris Utsch; Karin Hirsch; Thomas M Boemers; Elisabeth Mangold; Stefanie Heilmann; Kerstin U Ludwig; Ekkehart Jenetzky; Nadine Zwink; Susanne Moebus; Bernhard G Herrmann; Manuel Mattheisen; Markus M Nöthen; Michael Ludwig; Heiko Reutter
Journal:  PLoS Genet       Date:  2015-03-12       Impact factor: 5.917

10.  Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.

Authors:  Daisuke Matsumaru; Ryuma Haraguchi; Anne M Moon; Yoshihiko Satoh; Naomi Nakagata; Ken-ichi Yamamura; Naoki Takahashi; Sohei Kitazawa; Gen Yamada
Journal:  Eur J Hum Genet       Date:  2013-08-14       Impact factor: 4.246
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