Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study - 30/12/18

Doi : 10.1016/j.urology.2018.05.039

Anne-Karoline Ebert ^a, Nadine Zwink ^b, Ekkehart Jenetzky ^b,^c, Raimund Stein ^d, Thomas M. Boemers ^e, Martin Lacher ^f, Caroline Fortmann ^g, Florian Obermayr ^h, Margit Fisch ⁱ, Kiarasch Mortazawi ^j, Eberhard Schmiedeke ^k, Volker Eisenschmidt ^l, Mattias Schäfer ^m, Karin Hirsch ⁿ, Wolfgang H. Rösch ^l, Heiko Reutter ^o,^p,^⁎
^a Department of Pediatric Urology, University Hospital for Urology and Pediatric Urology Ulm, Ulm, Germany
^b Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
^c Child Center Maulbronn GmbH, Hospital for Pediatric Neurology and Social Pediatrics, Maulbronn, Germany
^d Department of Pediatric and Adolescent Urology, University of Mannheim, Mannheim, Germany
^e Department of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany
^f Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany
^g Center of Pediatric Surgery Hannover, Hannover Medical School and Bult Children's Hospital, Hannover, Germany
^h Department of Pediatric Surgery and Urology, University Hospital for Child and Adolescent Medicine Tübingen, Tübingen, Germany
ⁱ Department of Pediatric Urology, University Hospital Hamburg-Eppendorf, Hamburg, Germany
^j Department of Pediatric Surgery, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany
^k Department of Pediatric Surgery and Urology, Center for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany
^l Department of Pediatric Urology, University Medical Center Regensburg, Regensburg, Germany
^m Department of Pediatric Surgery and Urology, Cnopf'sche Kinderklinik, Nürnberg, Germany
ⁿ Department of Pediatric Urology, University Hospital Erlangen, Erlangen, Germany
^o Institute of Human Genetics, University of Bonn, Bonn, Germany
^p Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany

^⁎Address correspondence to: Heiko Reutter, Ph.D, M.D., Department of Neonatology and Pediatric Intensive Care and Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, Bonn 53105, Germany.Department of Neonatology and Pediatric Intensive Care and Institute of Human GeneticsUniversity of BonnSigmund-Freud-Str. 25Bonn53105Germany

Abstract

Objective

To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring “isolated” without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.

Materials and Methods

Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data as well as from a physical examination during a physician's interview, classified according to the international statistical classification of diseases and related health problems and grouped with the London Dysmorphology Database. Descriptive statistical analyses were performed.

Results

Majority of participants were male (68%) and expressed the classical bladder exstrophy phenotype (71%). Exstrophy variants occurred significantly more often in newborns (21%, P < .0001). Anomalies such as inguinal hernias, skeleton, and joint anomalies were equally present in both groups (P = .65 and P = .67). Heart defects were seen more often in newborns (6%) than in the cross-sectional group (1%; P = .033) and the general German population (1%). In total, 59% of the prospective and 48% of the cross-sectional patients had associated anomalies outside the spectrum (P = .16).

Conclusion

Phenomenological multicenter data confirmed the dimension of associated anomalies inside and outside the EEC spectrum. The detected anomalies are either important in preparing for the primary reconstruction or later in long-term follow-up. Associated anomalies of EEC should be spotlighted during routine check-up in all EEC patients.

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Plan

Materials and Methods

Patients´ Characteristics

Associated Anomalies

Associated Anomalies Within the EEC Spectrum ()

Associated Anomalies Outside the EEC Spectrum

Discussion

Strengths and Limitations

Conclusion

Funding Support: This work was done in the context of the “Network for Systematic Investigation of the Molecular Causes, Clinical Implications and Psychosocial Outcome of Congenital Uro-Rectal Malformations (CURE-Net)” and supported by a research grant (01GM08107) from the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung, BMBF) 2009-2012. Statistical calculations are supported by theGerman Research Foundation (Deutsche Forschungsgemeinschaft, DFG), funding signsJE681/3-1 (2013-2015), EB521/2-1 and JE681/4-1 (2015-2018). HR was supported by a grant from the DFG (RE 1723/1-1). www.cure-net.de.

Financial Disclosure: The authors declare that they have no relevant financial interests.