Family case of cardiac achalasia
The aim of review. To present modern data on the genetic theory of development of cardiac achalasia and data of original clinical case of the patient with vertical type of achalasia inheritance.Key points. Cardiac achalasia is idiopathic disease, caused by inflammation and degeneration of myenteric...
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| Format: | Article |
| Language: | Russian |
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Gastro LLC
2014-10-01
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| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
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| Online Access: | https://www.gastro-j.ru/jour/article/view/1132 |
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| _version_ | 1823860030068228096 |
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| author | Yu. V. Yevsyutina A. S. Trukhmanov V. T. Ivashkin |
| author_facet | Yu. V. Yevsyutina A. S. Trukhmanov V. T. Ivashkin |
| author_sort | Yu. V. Yevsyutina |
| collection | DOAJ |
| description | The aim of review. To present modern data on the genetic theory of development of cardiac achalasia and data of original clinical case of the patient with vertical type of achalasia inheritance.Key points. Cardiac achalasia is idiopathic disease, caused by inflammation and degeneration of myenteric plexus resulting in loss of postganglionic inhibitory neurons, essential for relaxation of the lower esophageal sphincter and peristaltic contractions of the esophagus. Main symptoms of achalasia are: dysphagia, regurgitation, chest pain and weight loss. Nowadays there are three main etiological hypotheses in cardiac achalasia development — genetic, infectious and autoimmune. Genetic theory is one of most widely discussed concepts.Conclusion. Presented clinical case illustrates genetic theory of cardiac achalasia development in 81 year-old mother and 58 year-old daughter. Genetic analysis which is broadly applied for patients with achalasia, has allowed to come around to disease etiology, anyhow additional investigations in this area are necessary. |
| format | Article |
| id | doaj-art-136f3dcf91374fbdb4e46a17e9a0e9a6 |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2014-10-01 |
| publisher | Gastro LLC |
| record_format | Article |
| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-136f3dcf91374fbdb4e46a17e9a0e9a62025-02-10T16:14:39ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732014-10-0124498104732Family case of cardiac achalasiaYu. V. Yevsyutina0A. S. Trukhmanov1V. T. Ivashkin2State educational government-financed institution of higher professional education «Sechenov First Moscow state medical university», Ministry of Healthcare of the Russian FederationState educational government-financed institution of higher professional education «Sechenov First Moscow state medical university», Ministry of Healthcare of the Russian FederationState educational government-financed institution of higher professional education «Sechenov First Moscow state medical university», Ministry of Healthcare of the Russian FederationThe aim of review. To present modern data on the genetic theory of development of cardiac achalasia and data of original clinical case of the patient with vertical type of achalasia inheritance.Key points. Cardiac achalasia is idiopathic disease, caused by inflammation and degeneration of myenteric plexus resulting in loss of postganglionic inhibitory neurons, essential for relaxation of the lower esophageal sphincter and peristaltic contractions of the esophagus. Main symptoms of achalasia are: dysphagia, regurgitation, chest pain and weight loss. Nowadays there are three main etiological hypotheses in cardiac achalasia development — genetic, infectious and autoimmune. Genetic theory is one of most widely discussed concepts.Conclusion. Presented clinical case illustrates genetic theory of cardiac achalasia development in 81 year-old mother and 58 year-old daughter. Genetic analysis which is broadly applied for patients with achalasia, has allowed to come around to disease etiology, anyhow additional investigations in this area are necessary.https://www.gastro-j.ru/jour/article/view/1132cardiac achalasiadysphagiaregurgitationgenetic polymorphismgastric fistula |
| spellingShingle | Yu. V. Yevsyutina A. S. Trukhmanov V. T. Ivashkin Family case of cardiac achalasia Российский журнал гастроэнтерологии, гепатологии, колопроктологии cardiac achalasia dysphagia regurgitation genetic polymorphism gastric fistula |
| title | Family case of cardiac achalasia |
| title_full | Family case of cardiac achalasia |
| title_fullStr | Family case of cardiac achalasia |
| title_full_unstemmed | Family case of cardiac achalasia |
| title_short | Family case of cardiac achalasia |
| title_sort | family case of cardiac achalasia |
| topic | cardiac achalasia dysphagia regurgitation genetic polymorphism gastric fistula |
| url | https://www.gastro-j.ru/jour/article/view/1132 |
| work_keys_str_mv | AT yuvyevsyutina familycaseofcardiacachalasia AT astrukhmanov familycaseofcardiacachalasia AT vtivashkin familycaseofcardiacachalasia |