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Congenital Glucagon-like Peptide-1 Deficiency in the Pathogenesis of Protracted Diarrhea in Mitchell–Riley Syndrome

2021Journal article Open access
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dc.contributor.authorNóbrega, S
dc.contributor.authorMonteiro, MP
dc.contributor.authorPereira-da-Silva, L
dc.contributor.authorPereira, SS
dc.contributor.authorHartmann, B
dc.contributor.authorHolst, JJ
dc.contributor.authorBarbosa Silva, R
dc.contributor.authorCordeiro-Ferreira, G
dc.date.accessioned2023-11-03T11:51:22Z
dc.date.available2023-11-03T11:51:22Z
dc.date.issued2021
dc.description.abstractContext: Mitchell-Riley syndrome due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. The RFX6 gene encodes a transcription factor involved in enteroendocrine cell differentiation required for beta-cell maturation. In contrast to the pathway by which RFX6 mutations leads to diabetes, the mechanisms underlying protracted diarrhea are unknown. Objective: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of Mitchell-Riley syndrome protracted diarrhea. Methods: Two case report descriptions. in a tertiary pediatric hospital. "Off-label" treatment with liraglutide. We describe 2 children diagnosed with Mitchell-Riley syndrome, presenting neonatal diabetes and protracted diarrhea. Both patients had nearly undetectable GLP-1 plasma levels and absence of GLP-1 immunostaining in distal intestine and rectum. The main outcome was to evaluate whether GLP-1 analogue therapy could improve Mitchell-Riley syndrome protracted diarrhea. Results: "Off-label" liraglutide treatment, licensed for type 2 diabetes treatment in children, was started as rescue therapy for protracted intractable diarrhea resulting in rapid improvement during the course of 12 months. Conclusion: Congenital GLP-1 deficiency was identified in patients with Mitchell-Riley syndrome. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Endocrinol Metab . 2021 Mar 25;106(4):1084-1090pt_PT
dc.identifier.doi10.1210/clinem/dgaa916pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4733
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherOxford University Presspt_PT
dc.subjectChildpt_PT
dc.subjectConsanguinitypt_PT
dc.subjectDiabetes Mellitus / bloodpt_PT
dc.subjectDiabetes Mellitus / congenitalpt_PT
dc.subjectDiabetes Mellitus / etiology*pt_PT
dc.subjectDiabetes Mellitus / geneticspt_PT
dc.subjectDiarrhea / bloodpt_PT
dc.subjectDiarrhea / congenitalpt_PT
dc.subjectDiarrhea / etiology*pt_PT
dc.subjectFatal Outcomept_PT
dc.subjectGallbladder Diseases / bloodpt_PT
dc.subjectGallbladder Diseases / congenitalpt_PT
dc.subjectGallbladder Diseases / etiology*pt_PT
dc.subjectGlucagon-Like Peptide 1 / bloodpt_PT
dc.subjectGlucagon-Like Peptide 1 / deficiency*pt_PT
dc.subjectGlucagon-Like Peptide 1 / physiologypt_PT
dc.subjectGlucagon-Like Peptide 1 / physiologypt_PT
dc.subjectHepatic Encephalopathy / pathologypt_PT
dc.subjectInfantpt_PT
dc.subjectIntestinal Atresia / bloodpt_PT
dc.subjectIntestinal Atresia / etiology*pt_PT
dc.subjectMutation, Missensept_PT
dc.subjectPortugalpt_PT
dc.subjectRegulatory Factor X Transcription Factors / geneticspt_PT
dc.subjectHDE GAS PEDpt_PT
dc.subjectHDE UCI NEOpt_PT
dc.titleCongenital Glucagon-like Peptide-1 Deficiency in the Pathogenesis of Protracted Diarrhea in Mitchell–Riley Syndromept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPagee1090pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPagee1084pt_PT
oaire.citation.titleThe Journal of Clinical Endocrinology & Metabolismpt_PT
oaire.citation.volume106pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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