Distinctive gastrointestinal motor dysfunction in patients with MNGIE
Alcalá-González, Luis Gerardo (Universitat Autònoma de Barcelona. Departament de Medicina)
Accarino, Ana María (Universitat Autònoma de Barcelona. Departament de Medicina)
Martí, Ramón 1915-1994 (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Sánchez-Tejerina, Daniel (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Llaurado, Arnau (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Azpiroz Vidaur, Fernando (Universitat Autònoma de Barcelona. Departament de Medicina)
Malagelada Prats, Carolina (Universitat Autònoma de Barcelona. Departament de Medicina)

Date:	2023
Abstract:	Background: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare mitochondrial disease caused by mutations in TYMP, encoding thymidine phosphorylase. Clinically it is characterized by severe gastrointestinal dysmotility associated with cachexia and a demyelinating sensorimotor polyneuropathy. Even though digestive manifestations are progressive and invariably lead to death, the features of gastrointestinal motor dysfunction have not been systematically evaluated. The objective of this study was to describe gastrointestinal motor dysfunction in MNGIE using state-of-the art techniques and to evaluate the relationship between motor abnormalities and symptoms. Methods: Prospective study evaluating gastrointestinal motor function and digestive symptoms in all patients with MNGIE attended at a national referral center in Spain between January 2018 and July 2022. Key Results: In this period, five patients diagnosed of MNGIE (age range 16-46 years, four men) were evaluated. Esophageal motility by high-resolution manometry was abnormal in four patients (two hypoperistalsis, two aperistalsis). Gastric emptying by scintigraphy was mildly delayed in four and indicative of gastroparesis in one. In all patients, small bowel high-resolution manometry exhibited a common, distinctive dysmotility pattern, characterized by repetitive bursts of spasmodic contractions, without traces of normal fasting and postprandial motility patterns. Interestingly, objective motor dysfunctions were detected in the absence of severe digestive symptoms. Conclusions and Inferences: MNGIE patients exhibit a characteristic motor dysfunction, particularly of the small bowel, even in patients with mild digestive symptoms and in the absence of morphological signs of intestinal failure. Since symptoms are not predictive of objective findings, early investigation is indicated.
Grants:	Instituto de Salud Carlos III PI17/01794 Agencia Estatal de Investigación PID2021-122295OB-I00
Note:	This work was supported by the Instituto de Salud Carlos III and co-financed by the European Union (FEDER/FSE) [PI17/01794]; Spanish Ministry of Science and Innovation (Dirección General de Investigación Científica y Técnica, PID2021-122295OB-I00); Ciberehd is funded by the Instituto de Salud Carlos III. LA was supported by scholarship from the Instituto de Salud Carlos III (CM20/00182).
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Published in:	Neurogastroenterology and Motility, Vol. 35 Núm. 10 (october 2023) , p. e14643, ISSN 1365-2982

DOI: 10.1111/nmo.14643

8 p, 3.3 MB

The record appears in these collections:
Articles > Research articles
Articles > Published articles