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Role of nutrition, lifestyle factors, and genes in the pathogenesis of congenital diaphragmatic hernia: human and animal studies

Authors

  • Leonardus WJE Beurskens,

    1. Department of Pediatric Surgery, Erasmus MC – University Medical Center Rotterdam, The Netherlands
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  • Dick Tibboel,

    1. Department of Pediatric Surgery, Erasmus MC – University Medical Center Rotterdam, The Netherlands
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  • Régine PM Steegers-Theunissen

    Corresponding author
    1. Department of Obstetrics and Gynecology, the Department of Epidemiology, the Department of Pediatrics / Division of Pediatric Cardiology, and the Department of Clinical Genetics, Erasmus MC – University Medical Center Rotterdam, The Netherlands
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RPM Steegers-Theunissen, Erasmus MC – University Medical Center Rotterdam, Department of Obstetrics and Gynecology, Building Ee Room 22-71a, PO Box 2040, 3000 CA Rotterdam, The Netherlands. E-mail: r.steegers@erasmusmc.nl.

Abstract

Congenital diaphragmatic hernia (CDH) is a severe malformation with a largely unknown pathogenesis. Because an unequivocal genetic relation is diagnosed only in a minority of patients, the involvement of multiple genetic and environmental factors is suggested. Although periconceptional environmental exposures, such as maternal malnutrition and unhealthy lifestyle factors, are associated with several birth defects, they have scarcely been investigated in CDH. Nutrition and lifestyle factors can be modified and may, therefore, contribute to the prevention of CDH. This review provides an overview of the human studies in which the influences of nutrition and some related lifestyle factors during embryogenesis of the diaphragm are described. In addition, the findings in humans are further substantiated by animal studies and the nutrient-gene interactions involved are elaborated upon. The information presented here contributes to the elucidation of the pathogenesis of CDH and will assist the development of preventive nutritional strategies in the future.

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