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.

Základní údaje

Originální název

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

Autoři

DOLINA, Jiří (203 Česká republika, domácí), Lumír KUNOVSKÝ (203 Česká republika, domácí), Radek KROUPA (203 Česká republika, domácí), Karel STARÝ (203 Česká republika, domácí), Petr JABANDŽIEV (203 Česká republika, domácí), Tereza NEŠPOROVÁ (203 Česká republika, domácí), Karel MÁCA (203 Česká republika, domácí), Tomáš ANDRAŠINA (703 Slovensko, domácí), Filip MAREK (203 Česká republika, domácí), Zdeněk KALA (203 Česká republika, domácí), Jitka VACULOVÁ (203 Česká republika, domácí), Dávid SAID (703 Slovensko, domácí), Martina ZAPLETALOVÁ (203 Česká republika, domácí), Jan LOCHMAN (203 Česká republika, domácí), Hana PÁLOVÁ (203 Česká republika, domácí), Ondřej SLABÝ (203 Česká republika, domácí), Lydie IZAKOVIČOVÁ HOLLÁ (203 Česká republika, domácí) a Petra BOŘILOVÁ LINHARTOVÁ (203 Česká republika, domácí)

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30219 Gastroenterology and hepatology

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 0.900

Kód RIV

RIV/00216224:14110/22:00124965

Organizační jednotka

Lékařská fakulta

DOI

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

UT WoS

000731346100001

Klíčová slova anglicky

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

Štítky

14110130, 14110213, 14110216, 14110223, 14110224, 14110230, 14110317, 14110323, 14110513, 14110518, CF GEN, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 15. 10. 2024 14:38, Ing. Martina Blahová

Anotace

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.

Návaznosti

NU20-03-00126, projekt VaV

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

Investor: Ministerstvo zdravotnictví ČR, Hostitelský mikrobiom ve vztahu k rozvoji Barrettova jícnu a adenokarcinomu jícnu, Podprogram 1 - standardní

ROZV/23/LF1/2019, interní kód MU

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

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Studium genetické predispozice hostitele a jeho mikrobiomu ve vztahu k chorobám dutiny ústní na jícnu, Interní rozvojové projekty

90132, velká výzkumná infrastruktura

Název: 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 a 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, roč. 166, č. 2, s. 228-235. ISSN 1213-8118. Dostupné z: 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 a 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, roč.~166, č.~2, s.~228-235. ISSN~1213-8118. Dostupné z: https://dx.doi.org/10.5507/bp.2021.040.

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