Achalasia and acromegaly: co-incidence of these diseases or a
new syndrome?

J 2022

Achalasia and acromegaly: co-incidence of these diseases or a new syndrome?

DOLINA, Jiří, Lumír KUNOVSKÝ, Radek KROUPA, Karel STARÝ, Petr JABANDŽIEV et. al.

Basic information

Original name

Achalasia and acromegaly: co-incidence of these diseases or a new syndrome?

Authors

DOLINA, Jiří (203 Czech Republic, belonging to the institution), Lumír KUNOVSKÝ (203 Czech Republic, belonging to the institution), Radek KROUPA (203 Czech Republic, belonging to the institution), Karel STARÝ (203 Czech Republic, belonging to the institution), Petr JABANDŽIEV (203 Czech Republic, belonging to the institution), Tereza NEŠPOROVÁ (203 Czech Republic, belonging to the institution), Karel MÁCA (203 Czech Republic, belonging to the institution), Tomáš ANDRAŠINA (703 Slovakia, belonging to the institution), Filip MAREK (203 Czech Republic, belonging to the institution), Zdeněk KALA (203 Czech Republic, belonging to the institution), Jitka VACULOVÁ (203 Czech Republic, belonging to the institution), Dávid SAID (703 Slovakia, belonging to the institution), Martina ZAPLETALOVÁ (203 Czech Republic, belonging to the institution), Jan LOCHMAN (203 Czech Republic, belonging to the institution), Hana PÁLOVÁ (203 Czech Republic, belonging to the institution), Ondřej SLABÝ (203 Czech Republic, belonging to the institution), Lydie IZAKOVIČOVÁ HOLLÁ (203 Czech Republic, belonging to the institution) and Petra BOŘILOVÁ LINHARTOVÁ (203 Czech Republic, belonging to the institution)

Edition

Biomedical Papers, Olomouc, Palacký University Olomouc, Faculty of Medicine and Dentistry, 2022, 1213-8118

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30219 Gastroenterology and hepatology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 0.900

RIV identification code

RIV/00216224:14110/22:00124965

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.5507/bp.2021.040

UT WoS

000731346100001

Keywords in English

acromegaly; pituitary tumour; achalasia; autoimmune syndrome; gene; mutation; AAAS; GPR101; GNAS

Abstract

V originále

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.

Links

NU20-03-00126, research and development project

Name: Hostitelský mikrobiom ve vztahu k rozvoji Barrettova jícnu a adenokarcinomu jícnu

Investor: Ministry of Health of the CR, Host microbiome in relation to Barrett ́s esophagus and esophageal adenocarcinoma development, Subprogram 1 - standard

ROZV/23/LF1/2019, interní kód MU

Name: Studium genetické predispozice hostitele a jeho mikrobiomu ve vztahu k chorobám dutiny ústní na jícnu

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

90132, large research infrastructures

Name: NCMG II

Citovat

DOLINA, Jiří, Lumír KUNOVSKÝ, Radek KROUPA, Karel STARÝ, Petr JABANDŽIEV, Tereza NEŠPOROVÁ, Karel MÁCA, Tomáš ANDRAŠINA, Filip MAREK, Zdeněk KALA, Jitka VACULOVÁ, Dávid SAID, Martina ZAPLETALOVÁ, Jan LOCHMAN, Hana PÁLOVÁ, Ondřej SLABÝ, Lydie IZAKOVIČOVÁ HOLLÁ and Petra BOŘILOVÁ LINHARTOVÁ. Achalasia and acromegaly: co-incidence of these diseases or a new syndrome? Biomedical Papers. Olomouc: Palacký University Olomouc, Faculty of Medicine and Dentistry, 2022, vol. 166, No 2, p. 228-235. ISSN 1213-8118. Available from: https://dx.doi.org/10.5507/bp.2021.040.

@article{1786617,
   author = {Dolina, Jiří and Kunovský, Lumír and Kroupa, Radek and Starý, Karel and Jabandžiev, Petr and Nešporová, Tereza and Máca, Karel and Andrašina, Tomáš and Marek, Filip and Kala, Zdeněk and Vaculová, Jitka and Said, Dávid and Zapletalová, Martina and Lochman, Jan and Pálová, Hana and Slabý, Ondřej and Izakovičová Hollá, Lydie and Bořilová Linhartová, Petra},
   article_location = {Olomouc},
   article_number = {2},
   doi = {http://dx.doi.org/10.5507/bp.2021.040},
   keywords = {acromegaly; pituitary tumour; achalasia; autoimmune syndrome; gene; mutation; AAAS; GPR101; GNAS},
   language = {eng},
   issn = {1213-8118},
   journal = {Biomedical Papers},
   title = {Achalasia and acromegaly: co-incidence of these diseases or a new syndrome?},
   url = {https://biomed.papers.upol.cz/corproof.php?tartkey=bio-000000-2877},
   volume = {166},
   year = {2022}
}

TY  - JOUR
ID  - 1786617
AU  - Dolina, Jiří - Kunovský, Lumír - Kroupa, Radek - Starý, Karel - Jabandžiev, Petr - Nešporová, Tereza - Máca, Karel - Andrašina, Tomáš - Marek, Filip - Kala, Zdeněk - Vaculová, Jitka - Said, Dávid - Zapletalová, Martina - Lochman, Jan - Pálová, Hana - Slabý, Ondřej - Izakovičová Hollá, Lydie - Bořilová Linhartová, Petra
PY  - 2022
TI  - Achalasia and acromegaly: co-incidence of these diseases or a new syndrome?
JF  - Biomedical Papers
VL  - 166
IS  - 2
SP  - 228-235
EP  - 228-235
PB  - Palacký University Olomouc, Faculty of Medicine and Dentistry
SN  - 12138118
KW  - acromegaly
KW  - pituitary tumour
KW  - achalasia
KW  - autoimmune syndrome
KW  - gene
KW  - mutation
KW  - AAAS
KW  - GPR101
KW  - GNAS
UR  - https://biomed.papers.upol.cz/corproof.php?tartkey=bio-000000-2877
N2  - 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.
ER  -

DOLINA, Jiří, Lumír KUNOVSKÝ, Radek KROUPA, Karel STARÝ, Petr JABANDŽIEV, Tereza NEŠPOROVÁ, Karel MÁCA, Tomáš ANDRAŠINA, Filip MAREK, Zdeněk KALA, Jitka VACULOVÁ, Dávid SAID, Martina ZAPLETALOVÁ, Jan LOCHMAN, Hana PÁLOVÁ, Ondřej SLABÝ, Lydie IZAKOVIČOVÁ HOLLÁ and Petra BOŘILOVÁ LINHARTOVÁ. Achalasia and acromegaly: co-incidence of these diseases or a new syndrome? \textit{Biomedical Papers}. Olomouc: Palacký University Olomouc, Faculty of Medicine and Dentistry, 2022, vol.~166, No~2, p.~228-235. ISSN~1213-8118. Available from: https://dx.doi.org/10.5507/bp.2021.040.

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