BACKGROUND
Achalasia is a primary esophageal motility disease characterized by impairment of normal esophageal peristalsis and absence of relaxation of the lower esophageal sphincter. Sometimes is can be a part of some genetic disorders. One of the causes of gastrointestinal motility disorders, including achalasia, is mitochondrial defects.
CASE SUMMARY
We report about a pregnant woman with a history of symptoms associated with inherited mitochondrial disease, which was confirmed by genetic tests, and who was treated
via
peroral endoscopic myotomy.
CONCLUSION
Peroral endoscopic myotomy is possible treatment option for a pregnant woman with achalasia caused by mitochondrial disease.
A Peroral Endoscopic Myotomy was performed on the patient with the persistent dysphagia despite preceding Heller myotomy combined with partial fundoplication, relaparotomy, fundoplication wrap reconstruction, gastrostomy and left-sided thoracoscopy with the drainage of the thoracic abscess. The use of intraoperative High-Resolution Manometry during Endoscopic Peroral Myotomy helped to reveal the reasons for the failure of previous treatment and to address the dysphagia.
Barrett’s esophagus is considered as a predictor of esophageal adenocarcinoma with multistage neoplastic progression at present time. The research assessed an expression of microRNA-21 in 25 patients with different degree of metaplasia and dysplasia of mucous coat of esophagus. The level of expression of microRNA depended on the presence and degree of expression of neoplastic changes of mucous coat of esophagus. The expression rising of microRNA was noted in patients with columnar-celled metaplasia and intraepithelial neoplasia and in case of esophageal adenocarcinoma. The treatment strategy could be determined by the method of estimation of the level of microRNA expression in biopsy material from mucous coat of esophagus in patients with gastroesophageal reflux disease and using other criteria.
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