| Title |
Simultaneous diagnosis of familial achalasia: report of two cases
|
|---|---|
| Published in |
Surgical Case Reports, May 2017
|
| DOI | 10.1186/s40792-017-0340-0 |
| Pubmed ID | |
| Authors |
Masato Hoshino, Nobuo Omura, Fumiaki Yano, Se Ryung Yamamoto, Minoru Matsuda, Katsuhiko Yanaga |
| Abstract |
Achalasia is a rare disease with a morbidity of 1 in 100,000, for which the exact mechanism of pathogenesis has not been clarified due to the small total number of patients. We herein report on our experience with two cases of familial achalasia in which the involvement of genetic inheritance was suspected. These cases consist of a man in his thirties and his mother in her sixties. The son consulted the Department of Gastrointestinal Medicine at our institute with dysphagia, and an upper gastrointestinal endoscopy revealed a gastric submucosal tumor with a maximal diameter of approximately 50 mm. Achalasia was also strongly suspected due to the enlargement of the esophagus to the maximum transverse diameter of 55 mm by esophagography along with delayed clearance of barium. A detailed interview revealed prolonged mild dysphagia in his mother. Therefore, high-resolution manometry was carried out in both patients. As a result, peristaltic disorder was observed in the esophageal body in both the mother and son, leading to a definitive diagnosis of achalasia. For the son, total gastrectomy including the lower esophagus with Roux-en-Y reconstruction was performed. His postoperative course was uneventful, and the patient was discharged from hospital in remission on the 9th day following surgery and is currently undergoing follow-up as an outpatient. We hereby report on a very rare case of familial achalasia that we experienced which may suggest a genetic element in the onset of achalasia, and reviewed the literature. |
Mendeley readers
The data shown below were compiled from readership statistics for 4 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 4 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 2 | 50% |
| Other | 1 | 25% |
| Professor | 1 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 2 | 50% |
| Medicine and Dentistry | 2 | 50% |
Attention Score in Context
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#22,254,207
of 24,835,287 outputs
Outputs from Surgical Case Reports
#272
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#277,079
of 315,865 outputs
Outputs of similar age from Surgical Case Reports
#6
of 10 outputs
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