RT Journal Article
SR Electronic
A1 Dolina, Jiri
A1 Kunovsky, Lumir
A1 Kroupa, Radek
A1 Stary, Karel
A1 Jabandziev, Petr
A1 Nesporova, Tereza
A1 Maca, Karel
A1 Andrasina, Tomas
A1 Marek, Filip
A1 Kala, Zdenek
A1 Vaculova, Jitka
A1 Said, David
A1 Zapletalova, Martina
A1 Lochman, Jan
A1 Palova Noskova, Hana
A1 Slaby, Ondrej
A1 Izakovicova Holla, Lydie
A1 Borilova Linhartova, Petra
T1 Achalasia and acromegaly: Co-incidence of these diseases or a new syndrome?
JF Biomedical papers
YR 2022
VO 166
IS 2
SP 228
OP 235
DO 10.5507/bp.2021.040
UL https://biomed.papers.upol.cz/artkey/bio-202202-0016.php
AB 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.