Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome. / Nóbrega, Sara; Monteiro, Mariana P; Pereira-da-Silva, Luís; Pereira, Sofia S; Hartmann, Bolette; Holst, Jens J; Barbosa Silva, Raul; Cordeiro-Ferreira, Gonçalo.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 106, No. 4, 2021, p. 1084-1090.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Nóbrega, S, Monteiro, MP, Pereira-da-Silva, L, Pereira, SS, Hartmann, B, Holst, JJ, Barbosa Silva, R & Cordeiro-Ferreira, G 2021, 'Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome', Journal of Clinical Endocrinology and Metabolism, vol. 106, no. 4, pp. 1084-1090. https://doi.org/10.1210/clinem/dgaa916

APA

Nóbrega, S., Monteiro, M. P., Pereira-da-Silva, L., Pereira, S. S., Hartmann, B., Holst, J. J., Barbosa Silva, R., & Cordeiro-Ferreira, G. (2021). Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome. Journal of Clinical Endocrinology and Metabolism, 106(4), 1084-1090. https://doi.org/10.1210/clinem/dgaa916

Vancouver

Nóbrega S, Monteiro MP, Pereira-da-Silva L, Pereira SS, Hartmann B, Holst JJ et al. Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome. Journal of Clinical Endocrinology and Metabolism. 2021;106(4):1084-1090. https://doi.org/10.1210/clinem/dgaa916

Author

Nóbrega, Sara ; Monteiro, Mariana P ; Pereira-da-Silva, Luís ; Pereira, Sofia S ; Hartmann, Bolette ; Holst, Jens J ; Barbosa Silva, Raul ; Cordeiro-Ferreira, Gonçalo. / Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome. In: Journal of Clinical Endocrinology and Metabolism. 2021 ; Vol. 106, No. 4. pp. 1084-1090.

Bibtex

@article{a3f21c2f68424dd2882e69ef75e062de,
title = "Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome",
abstract = "CONTEXT: Mitchell Riley syndrome (MRS) due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. 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.OBJECTIVES: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of MRS protracted diarrhea.DESIGN: Two case report descriptions.SETTING: Tertiary pediatric hospital.INTERVENTION: {"}Off-label{"} treatment with liraglutide.PATIENTS: We report two children diagnosed with MRS, 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.MAIN OUTCOME: To evaluate whether GLP-1 analogue therapy could improve MRS 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.CONCLUSIONS: Congenital GLP-1 deficiency was identified in patients with MRS. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.",
author = "Sara N{\'o}brega and Monteiro, {Mariana P} and Lu{\'i}s Pereira-da-Silva and Pereira, {Sofia S} and Bolette Hartmann and Holst, {Jens J} and {Barbosa Silva}, Raul and Gon{\c c}alo Cordeiro-Ferreira",
year = "2021",
doi = "10.1210/clinem/dgaa916",
language = "English",
volume = "106",
pages = "1084--1090",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "Oxford University Press",
number = "4",

}

RIS

TY - JOUR

T1 - Congenital Glucagon-like peptide-1 deficiency in the pathogenesis of protracted diarrhea in Mitchell Riley syndrome

AU - Nóbrega, Sara

AU - Monteiro, Mariana P

AU - Pereira-da-Silva, Luís

AU - Pereira, Sofia S

AU - Hartmann, Bolette

AU - Holst, Jens J

AU - Barbosa Silva, Raul

AU - Cordeiro-Ferreira, Gonçalo

PY - 2021

Y1 - 2021

N2 - CONTEXT: Mitchell Riley syndrome (MRS) due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. 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.OBJECTIVES: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of MRS protracted diarrhea.DESIGN: Two case report descriptions.SETTING: Tertiary pediatric hospital.INTERVENTION: "Off-label" treatment with liraglutide.PATIENTS: We report two children diagnosed with MRS, 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.MAIN OUTCOME: To evaluate whether GLP-1 analogue therapy could improve MRS 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.CONCLUSIONS: Congenital GLP-1 deficiency was identified in patients with MRS. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.

AB - CONTEXT: Mitchell Riley syndrome (MRS) due to RFX6 gene mutations is characterized by neonatal diabetes and protracted diarrhea. 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.OBJECTIVES: To assess whether glucagon-like peptide-1 (GLP-1) was involved in the pathogenesis of MRS protracted diarrhea.DESIGN: Two case report descriptions.SETTING: Tertiary pediatric hospital.INTERVENTION: "Off-label" treatment with liraglutide.PATIENTS: We report two children diagnosed with MRS, 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.MAIN OUTCOME: To evaluate whether GLP-1 analogue therapy could improve MRS 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.CONCLUSIONS: Congenital GLP-1 deficiency was identified in patients with MRS. The favorable response to liraglutide further supports GLP-1 involvement in the pathogenesis of protracted diarrhea and its potential therapeutic use.

U2 - 10.1210/clinem/dgaa916

DO - 10.1210/clinem/dgaa916

M3 - Journal article

C2 - 33382423

VL - 106

SP - 1084

EP - 1090

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 4

ER -

ID: 258281126