Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome?
Background. Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characterized by aperistalsis of the oesophagus with incompl...
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| Format: | Article |
| Language: | English |
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Palacký University Olomouc, Faculty of Medicine and Dentistry
2022-05-01
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| Series: | Biomedical Papers |
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| Online Access: | https://biomed.papers.upol.cz/artkey/bio-202202-0016_achalasia-and-acromegaly-co-incidence-of-these-diseases-or-a-new-syndrome.php |
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| author | Jiri Dolina Lumir Kunovsky Radek Kroupa Karel Stary Petr Jabandziev Tereza Nesporova Karel Maca Tomas Andrasina Filip Marek Zdenek Kala Jitka Vaculova David Said Martina Zapletalova Jan Lochman Hana Palova Noskova Ondrej Slaby Lydie Izakovicova Holla Petra Borilova Linhartova |
| author_facet | Jiri Dolina Lumir Kunovsky Radek Kroupa Karel Stary Petr Jabandziev Tereza Nesporova Karel Maca Tomas Andrasina Filip Marek Zdenek Kala Jitka Vaculova David Said Martina Zapletalova Jan Lochman Hana Palova Noskova Ondrej Slaby Lydie Izakovicova Holla Petra Borilova Linhartova |
| author_sort | Jiri Dolina |
| collection | DOAJ |
| description | Background. Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characterized by aperistalsis of the oesophagus with incomplete lower oesophageal sphincter relaxation and whose aetiology remains unknown. Mutations in some genes have previously been associated with the development of acromegaly or achalasia. The study aims were to analyse mutations in selected genes in a woman having both of these diseases, to identify their aetiological factors, and to suggest explanations for the co-incidence of acromegaly and achalasia. Methods and Results. A female patient with acromegaly, achalasia, and a multinodular thyroid gland with hyperplastic colloid nodules underwent successful treatment of achalasia via laparoscopic Heller myotomy, a thyroidectomy was performed, and the pituitary macroadenoma was surgically excised via transnasal endoscopic extirpation. Germline DNA from the leukocytes was analysed by sequencing methods for a panel of genes. No pathogenic mutation in AAAS, AIP, MEN1, CDKN1B, PRKAR1A, SDHB, GPR101, and GNAS genes was found in germline DNA. The somatic mutation c.601C>T/p.R201C in the GNAS gene was identified in DNA extracted from a tissue sample of the pituitary macroadenoma. Conclusions. We here describe the first case report to our knowledge of a patient with both acromegaly and achalasia. Association of acromegaly and soft muscle tissue hypertrophy may contribute to achalasia's development. If one of these diagnoses is determined, the other also should be considered along with increased risk of oesophageal and colorectal malignancy. |
| first_indexed | 2024-04-14T00:16:13Z |
| format | Article |
| id | doaj.art-83a2668532f247c28216fb5c4f930c85 |
| institution | Directory Open Access Journal |
| issn | 1213-8118 1804-7521 |
| language | English |
| last_indexed | 2024-04-14T00:16:13Z |
| publishDate | 2022-05-01 |
| publisher | Palacký University Olomouc, Faculty of Medicine and Dentistry |
| record_format | Article |
| series | Biomedical Papers |
| spelling | doaj.art-83a2668532f247c28216fb5c4f930c852022-12-22T02:23:08ZengPalacký University Olomouc, Faculty of Medicine and DentistryBiomedical Papers1213-81181804-75212022-05-01166222823510.5507/bp.2021.040bio-202202-0016Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome?Jiri Dolina0Lumir Kunovsky1Radek Kroupa2Karel Stary3Petr Jabandziev4Tereza Nesporova5Karel Maca6Tomas Andrasina7Filip Marek8Zdenek Kala9Jitka Vaculova10David Said11Martina Zapletalova12Jan Lochman13Hana Palova Noskova14Ondrej Slaby15Lydie Izakovicova Holla16Petra Borilova Linhartova17Department of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicCentral European Institute of Technology, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicDepartment of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Neurosurgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Radiology and Nuclear Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech RepublicDepartment of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicDepartment of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicCentral European Institute of Technology, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicCentral European Institute of Technology, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicDepartment of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicDepartment of Pathophysiology, Faculty of Medicine, Masaryk University, Kamenice 5, 62500, Brno, Czech RepublicBackground. Acromegaly is a disorder associated with hypersecretion of growth hormone, most usually caused by a pituitary adenoma. Dysmotility of the gastrointestinal tract has been reported in acromegalic patients. Achalasia is a disorder characterized by aperistalsis of the oesophagus with incomplete lower oesophageal sphincter relaxation and whose aetiology remains unknown. Mutations in some genes have previously been associated with the development of acromegaly or achalasia. The study aims were to analyse mutations in selected genes in a woman having both of these diseases, to identify their aetiological factors, and to suggest explanations for the co-incidence of acromegaly and achalasia. Methods and Results. A female patient with acromegaly, achalasia, and a multinodular thyroid gland with hyperplastic colloid nodules underwent successful treatment of achalasia via laparoscopic Heller myotomy, a thyroidectomy was performed, and the pituitary macroadenoma was surgically excised via transnasal endoscopic extirpation. Germline DNA from the leukocytes was analysed by sequencing methods for a panel of genes. No pathogenic mutation in AAAS, AIP, MEN1, CDKN1B, PRKAR1A, SDHB, GPR101, and GNAS genes was found in germline DNA. The somatic mutation c.601C>T/p.R201C in the GNAS gene was identified in DNA extracted from a tissue sample of the pituitary macroadenoma. Conclusions. We here describe the first case report to our knowledge of a patient with both acromegaly and achalasia. Association of acromegaly and soft muscle tissue hypertrophy may contribute to achalasia's development. If one of these diagnoses is determined, the other also should be considered along with increased risk of oesophageal and colorectal malignancy.https://biomed.papers.upol.cz/artkey/bio-202202-0016_achalasia-and-acromegaly-co-incidence-of-these-diseases-or-a-new-syndrome.phpacromegalypituitary tumourachalasiaautoimmune syndromegenemutationaaasgpr101gnas |
| spellingShingle | Jiri Dolina Lumir Kunovsky Radek Kroupa Karel Stary Petr Jabandziev Tereza Nesporova Karel Maca Tomas Andrasina Filip Marek Zdenek Kala Jitka Vaculova David Said Martina Zapletalova Jan Lochman Hana Palova Noskova Ondrej Slaby Lydie Izakovicova Holla Petra Borilova Linhartova Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? Biomedical Papers acromegaly pituitary tumour achalasia autoimmune syndrome gene mutation aaas gpr101 gnas |
| title | Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? |
| title_full | Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? |
| title_fullStr | Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? |
| title_full_unstemmed | Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? |
| title_short | Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome? |
| title_sort | achalasia and acromegaly co incidence of these diseases or a new syndrome |
| topic | acromegaly pituitary tumour achalasia autoimmune syndrome gene mutation aaas gpr101 gnas |
| url | https://biomed.papers.upol.cz/artkey/bio-202202-0016_achalasia-and-acromegaly-co-incidence-of-these-diseases-or-a-new-syndrome.php |
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