Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".

Department of Pediatric Surgery, Erasmus MC-Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands.
Current Gastroenterology Reports 06/2010; 12(3):215-22. DOI: 10.1007/s11894-010-0108-1
Source: PubMed

ABSTRACT Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.

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    ABSTRACT: Biallelic mutations of the SLC25A13 gene result in citrin deficiency (CD) in humans. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is the major CD phenotype in pediatrics; however, knowledge on its genotypic and phenotypic characteristics remains limited. The present study aimed to explore novel molecular and clinical characteristics of CD. An infant suspected to have NICCD as well as her parents were enrolled as the research subjects. SLC25A13 mutations were investigated using various methods, including cDNA cloning and sequencing. The pathogenicity of a novel mutation was analyzed bioinformatically and functionally with a yeast model. Both the infant and her father were heterozygous for c.2T>C and c.790G>A, while the mother was only a c.2T>C carrier. The novel c.790G>A mutation proved bioinformatically and functionally pathogenic. The infant had esophageal atresia and an accessory hepatic duct, along with bile plug formation confirmed by laparoscopic surgery. However, the father seemed to be healthy thus far. The findings of the present study enrich the genotypic and phenotypic characteristics of CD patients, and provided clinical and molecular evidence suggesting the possible non-penetrance of SLC25A13 mutations and the likely involvement of this gene in primitive foregut development during early embryonic life.
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    ABSTRACT: Esophageal atresia (EA) is defined as a discontinuity of the lumen of the esophagus repaired soon after birth. Dysphagia is a common symptom in these patients, usually related to stricture, dysmotility or peptic esophagitis. We present 4 cases of patients with EA who complained of dysphagia and the diagnosis of Eosinophilic esophagitis (EoE) was made, ages ranging from 9 to 16 years. Although our patients were on acid suppression years after their EA repair, they presented with acute worsening of dysphagia. Esophogastroduodenoscopy and/or barium swallow did not show stricture and biopsies revealed elevated eosinophil counts consistent with EoE. Two of 4 patients improved symptomatically with the topical steroids. It is important to note that all our patients have asthma and 3 out of 4 have tested positive for food allergies. One of our patients developed recurrent anastomotic strictures that improved with the treatment of the EoE. A previous case report linked the recurrence of esophageal strictures in patients with EA repair with EoE. Once the EoE was treated the strictures resolved. On the other hand, based on our observation, EoE could be present in patients without recurrent anastomotic strictures. There appears to be a spectrum in the disease process. We are suggesting that EoE is a frequent concomitant problem in patients with history of congenital esophageal deformities, and for this reason any of these patients with refractory reflux symptoms or dysphagia (with or without anastomotic stricture) may benefit from an endoscopic evaluation with biopsies to rule out EoE.
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    ABSTRACT: ABSTRACT H-type tracheoesophageal fistula (TEF) is a relatively uncommon congenital anomaly that can be difficult to identify and sometimes, challenging to repair. It is the Gross E type of esphageal atresia (EA) and constitutes 4% of all EA cases. Three infants with TEF were treated between 2003 and 2012. The diagnostic workup, surgical technique, and postoperative course of patients who underwent repair of H-TEF were reviewed. Conventional esophagram demonstrated the fistula in 2 of the patients and a cineradiographic procedure was performed to outline the H-TEF in the last patient. In all 3 cases the location of the fistula was confirmed by tracheoscopy. The closure of the fistula was made by cervical route in 2 cases and by thoracotomy in the remainig patient with distal located fistula. A high index of suspicion for an H-TEF should be maintained in the presence of neonatal respiratory symptoms. Since H-TEFs are known to be complicated with lower respiratory tract infection, early referral of these patients to pediatric surgeons and accurate and timely surgical treatment should be realized.
    İzmir Dr. Behçet Uz Çocuk Hast. Dergisi. 10/2013; 2014(4(1)):59-64.

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