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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2021
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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. |
format | Online Article Text |
id | pubmed-7818798 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BMJ Publishing Group |
record_format | MEDLINE/PubMed |
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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