Connecting the ends: Exploring challenges and innovations in esophageal atresia

Abstract

Esophageal atresia (EA) is a rare birth defect of the esophagus, occurring in 2.43 per 10,000 live births. Surgery to repair the esophagus is necessary within days after birth, now commonly performed using minimally invasive thoracoscopic techniques. Recent advancements have shifted attention from survival to long-term outcome and quality of life. EA patients often face gastrointestinal and respiratory issues, with tracheomalacia (TM) causing significant respiratory symptoms due to tracheal collapse. A rare type of EA is long-gap EA (LGEA), in which the gap between the proximal and distal pouch of the esophagus is wider. In this thesis, we investigate gastrointestinal and respiratory symptoms and quality of life in patients with (LG)EA. Previously, the surgical correction of LGEA patients involved replacing the esophagus with (part of) the stomach, jejunum or colon, an operation known as esophageal replacement surgery. This thesis demonstrates that gastrointestinal symptoms (i.e. acid reflux and swallowing difficulties) and mucosal changes occur after esophageal replacement surgery for LGEA. The quality of life after esophageal replacement for LGEA is comparable to the healthy population. The outcome of the thoracoscopic traction technique, a method in which the esophagus is lengthened in two or three procedures, shows good long-term gastrointestinal results. Quality of life was comparable with healthy children. Airway complaints are common in children with EA. The exact cause of this is not yet known. One possible cause is tracheomalacia, a flaccidity of the trachea, which is common in children with EA. In this thesis, we present a new surgical treatment for tracheomalacia, the primary posterior tracheopexy, in which the posterior tracheal wall is fixed to the anterior spinal ligament, to prevent the tracheal wall from collapsing. Results after 1 year show fewer respiratory infections in children with moderate to severe tracheomalacia who have been treated with primary posterior tracheopexy compared to children without treatment. Additionally, we also investigate other potential causes of airway complaints. Airway epithelial cells from EA patients were cultivated, stem cells were differentiated and converted to a 3D organoid model. Ciliary function was assessed, which showed normal function. Research into bacteria in the lower airways indicated frequent bacterial colonization in children with EA, which could possibly explain airway complaints in esophageal atresia. In summary, this thesis highlights the complexity of EA and emphasizes the importance of specialized care and further research to improve the treatment and quality of life for these patients.