Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

TY - JOUR

T1 - Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

AU - Ebert, Anne-Karoline

AU - Zwink, Nadine

AU - Jenetzky, Ekkehart

AU - Stein, Raimund

AU - Boemers, Thomas M

AU - Lacher, Martin

AU - Fortmann, Caroline

AU - Obermayr, Florian

AU - Fisch, Margit

AU - Mortazawi, Kiarasch

AU - Schmiedeke, Eberhard

AU - Eisenschmidt, Volker

AU - Schäfer, Mattias

AU - Hirsch, Karin

AU - Rösch, Wolfgang H

AU - Reutter, Heiko

N1 - Copyright © 2018 Elsevier Ltd. All rights reserved.

PY - 2019/1

Y1 - 2019/1

N2 - 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.

AB - 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.

KW - Journal Article

U2 - 10.1016/j.urology.2018.05.039

DO - 10.1016/j.urology.2018.05.039

M3 - SCORING: Journal article

C2 - 30076940

VL - 123

SP - 210

EP - 219

JO - UROLOGY

JF - UROLOGY

SN - 0090-4295

ER -