Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review
Authors:
- 29 September 2023
- journal article
- review article
- Published by Wiley in Journal of Pediatric Gastroenterology and Nutrition
- Vol. 77 (6) , 703-712
Abstract
Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital malformation occurring in 1/2500–4000 live births, may suffer threats to their cardiac, respiratory, and digestive health in addition to anomalies that may exist in the genitourinary and musculoskeletal systems. Optimal care for these patients throughout their lives is best achieved through a coordinated, multidisciplinary approach that our health care system is not always well‐equipped to provide. This review, though not exhaustive, highlights the components of care that pertain to initial surgical reconstruction and subsequent diagnosis and management of the complications that are most frequently encountered. Authors from among the many specialties involved in the care of these patients summarize the current best practice with attention to the most recent advances. Assessment and improvement of quality of life and transition to adult specialists as children grow to adulthood is also reviewed.Keywords
This publication has 59 references indexed in Scilit:
- Structural and numerical changes of chromosome X in patients with esophageal atresiaEuropean Journal of Human Genetics, 2014
- Chromosome Aberrations and Gene Mutations in Patients With Esophageal AtresiaJournal of Pediatric Gastroenterology and Nutrition, 2013
- Long-term respiratory complications of congenital esophageal atresia with or without tracheoesophageal fistula: an updateDiseases of the Esophagus, 2013
- VACTERL Association Etiology: The Impact of de novo and Rare Copy Number VariationsMolecular Syndromology, 2012
- Reduction of Interstitial Cells of Cajal in Esophageal AtresiaJournal of Pediatric Gastroenterology and Nutrition, 2010
- Longitudinal Follow-up of Bronchial Inflammation, Respiratory Symptoms, and Pulmonary Function in Adolescents after Repair of Esophageal Atresia with Tracheoesophageal FistulaThe Journal of Pediatrics, 2008
- Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeHuman Molecular Genetics, 2006
- Quality of Life in Adult Survivors of Correction of Esophageal AtresiaArchives of Surgery, 2005
- Health-related quality of life in adults after repair of congenital diaphragmatic defects—a questionnaire studyJournal of Pediatric Surgery, 2005
- Depression Among Children with Chronic Medical Problems: A Meta-AnalysisJournal of Pediatric Psychology, 1994