The Relationship Between Gastric Myoelectric Activity and Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study
| Autor: | Boyoung Joung, Dong Jik Shin, Moon Hyoung Lee, Jie Hyun Kim, Hyojin Park, Kyo Tae Jung, Yangsoo Jang |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology medicine.diagnostic_test business.industry Sodium channel Gastroenterology medicine.disease Interstitial cell of Cajal symbols.namesake Postprandial Functional gastrointestinal disorder Channelopathy Internal medicine Mutation (genetic algorithm) cardiovascular system medicine symbols cardiovascular diseases Neurology (clinical) business Brugada syndrome Genetic testing |
| Zdroj: | Journal of Neurogastroenterology and Motility. 18:58-63 |
| ISSN: | 2093-0887 2093-0879 |
| DOI: | 10.5056/jnm.2012.18.1.58 |
| Popis: | Background/Aims SCN5A encodes the cardiac-specific NaV1.5 sodium channel, and Brugada syndrome is a cardiac conduction disorder associated with sodium channel α-subunit (SCN5A) mutation. The SCN5A-encoded NaV1.5 channel is also found on gastrointestinal smooth muscle and interstitial cells of Cajal. We investigated the relationship between functional dyspepsia (FD) and SCN5A mutation to evaluate sodium channelopathy in FD. Methods Patients with Brugada syndrome or FD were examined using upper endoscopy, electrogastrography (EGG), FD symptom questionnaire based on Rome III criteria and genetic testing for SCN5A mutation. Symptom scores of FD and EGG findings were analyzed according to SCN5A mutation. Results A total of 17 patients (4 Brugada syndrome and 13 FD) participated in the study. An SCN5A mutation was noted in 75.0% of the patients with Brugada syndrome and in 1 (7.7%) of the patients with FD. Of 4 patients with SCN5A mutation, 2 (50%) had FD. Postprandial tachygastria and bradygastria were noted in 2 (50%) and 1 (25%) of the patients with SCN5A mutation, respectively. The EGG findings were not significantly different between positive and negative mutation in 17 patients. Conclusions Although we did not find statistically significant results, we suggest that it is meaningful to attempt to identify differences in symptoms and gastric myoelectric activity according to the presence of an SCN5A mutation by EGG analysis. The relationship between FD and sodium channelopathy should be elucidated in the future by a large-scale study. (J Neurogastroenterol Motil 2012;18:58-63) |
| Databáze: | OpenAIRE |
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