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@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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