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Monogenic diabetes: a new pathogenic variant of HNF1A gene

Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated...

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Autores principales: Oliveira, Raquel Vilela, Bernardo, Teresa, Martins, Sandrina, Sequeira, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818798/
https://www.ncbi.nlm.nih.gov/pubmed/33472798
http://dx.doi.org/10.1136/bcr-2019-231837
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author Oliveira, Raquel Vilela
Bernardo, Teresa
Martins, Sandrina
Sequeira, Ana
author_facet Oliveira, Raquel Vilela
Bernardo, Teresa
Martins, Sandrina
Sequeira, Ana
author_sort Oliveira, Raquel Vilela
collection PubMed
description Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated haemoglobin of 6.8%. She started a sugar-free fast-absorption diet and no insulin therapy was required. Fasting glucose was normal, but 2 hours after lunch she presented hyperglycemia as after 2 hours of an oral glucose tolerance test, with 217 mg/dL. Family history was positive for type 2 diabetes mellitus with an autosomal dominant pattern. She was discharged with fast-absorption sugar-free diet and low-dose of sulfonylurea. A genetic test was performed detecting a mutation in heterozygosity of HNF1A gene, compatible with the diagnosis of maturity onset diabetes of the young 3 (MODY3), not reported in the literature. Early recognition of signs and symptoms increase awareness of MODY. Genetic test allows confirmation and leads to optimised treatment.
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spelling pubmed-78187982021-01-25 Monogenic diabetes: a new pathogenic variant of HNF1A gene Oliveira, Raquel Vilela Bernardo, Teresa Martins, Sandrina Sequeira, Ana BMJ Case Rep Rare Disease Maturity onset diabetes of the young defines a diabetes mellitus subtype, with no insulin resistance or autoimmune pancreatic β-cells dysfunction, that occurs by mutation in a single gene. A 13-year-old girl hospitalised due to hyperglycemia plus glycosuria without ketosis, and with normal glycated haemoglobin of 6.8%. She started a sugar-free fast-absorption diet and no insulin therapy was required. Fasting glucose was normal, but 2 hours after lunch she presented hyperglycemia as after 2 hours of an oral glucose tolerance test, with 217 mg/dL. Family history was positive for type 2 diabetes mellitus with an autosomal dominant pattern. She was discharged with fast-absorption sugar-free diet and low-dose of sulfonylurea. A genetic test was performed detecting a mutation in heterozygosity of HNF1A gene, compatible with the diagnosis of maturity onset diabetes of the young 3 (MODY3), not reported in the literature. Early recognition of signs and symptoms increase awareness of MODY. Genetic test allows confirmation and leads to optimised treatment. BMJ Publishing Group 2021-01-20 /pmc/articles/PMC7818798/ /pubmed/33472798 http://dx.doi.org/10.1136/bcr-2019-231837 Text en © BMJ Publishing Group Limited 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Rare Disease
Oliveira, Raquel Vilela
Bernardo, Teresa
Martins, Sandrina
Sequeira, Ana
Monogenic diabetes: a new pathogenic variant of HNF1A gene
title Monogenic diabetes: a new pathogenic variant of HNF1A gene
title_full Monogenic diabetes: a new pathogenic variant of HNF1A gene
title_fullStr Monogenic diabetes: a new pathogenic variant of HNF1A gene
title_full_unstemmed Monogenic diabetes: a new pathogenic variant of HNF1A gene
title_short Monogenic diabetes: a new pathogenic variant of HNF1A gene
title_sort monogenic diabetes: a new pathogenic variant of hnf1a gene
topic Rare Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818798/
https://www.ncbi.nlm.nih.gov/pubmed/33472798
http://dx.doi.org/10.1136/bcr-2019-231837
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