Phenotype Severity in the Bladder Exstrophy-Epispadias Complex: Analysis of Genetic and Nongenetic Contributing Factors in 441 Families from North America and Europe - 11/10/11
, Simeon A. Boyadjiev, MD c, d, Lisa Gambhir, MD e, Anne-Karoline Ebert, MD f, Wolfgang H. Rösch, MD f, Raimund Stein, MD g, Annette Schröder, MD g, Thomas M. Boemers, MD h, Enrika Bartels, MD a, Hannes Vogt, MD h, i, Boris Utsch, MD j, k, Martin Müller, MD k, Birte Detlefsen, MD h, Nadine Zwink, Dipl-Inform Med l, Sebastian Rogenhofer, MD m, Rita Gobet, MD n, Goedele M.A. Beckers, MD o, Arend Bökenkamp, MD p, Abdol-Mohammad Kajbafzadeh, MD q, Enrique Jaureguizar, MD l, Markus Draaken, Dipl-Oecotroph a, s, Yegappan Lakshmanan, MD d, John P. Gearhart, MD d, Michael Ludwig, PhD e, Markus M. Nöthen, MD a, s, Ekkehart Jenetzky, MD r
Reprint requests: Heiko Reutter, MD, Institute of Human Genetics and Department of Neonatology, Children’s Hospital, University of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn, Germany.Abstract |
Objective |
To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC).
Study design |
Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity.
Results |
Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias).
Conclusions |
Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.
Le texte complet de cet article est disponible en PDF.Mots-clés : BEEC, CBE, CE, CL-P, E, EUROCAT, ES cohort, IVF, ICSI, NAS cohort, OEIS, VSD
Plan
| E.J., H.R., E.B., N.Z., A -K.E., W.R., R.S., A.S., T.B., M.N., and M.L. are members of the “Network for the Systematic Investigation of the Molecular Causes, Clinical Implications, and Psychosocial Outcome of Congenital Uro-Rectal Malformations (CURE-Net),” which is supported by a research grant (01GM08107) from the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung, BMBF): www.cure-net.de. S.B. is partially supported by the Children’s Miracle Network, endowed chair in pediatric genetics. This project has been partially supported through NIH grants (R01 DE016886 from the NIDCD/NIH; M01-RR00052 from the NCRR/NIH) and a CMN grant (CMNSB06). The authors declare no conflicts of interest. |
Vol 159 - N° 5
P. 825 - novembre 2011 Retour au numéro
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