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NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report

BACKGROUND: Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this f...

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Autores principales: Brodosi, Lucia, Baracco, Bianca, Mantovani, Vilma, Pironi, Loris
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518322/
https://www.ncbi.nlm.nih.gov/pubmed/34654408
http://dx.doi.org/10.1186/s12902-021-00864-w
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author Brodosi, Lucia
Baracco, Bianca
Mantovani, Vilma
Pironi, Loris
author_facet Brodosi, Lucia
Baracco, Bianca
Mantovani, Vilma
Pironi, Loris
author_sort Brodosi, Lucia
collection PubMed
description BACKGROUND: Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this form of diabetes mellitus. NEUROD1 is expressed by the nervous and the pancreatic tissues, and it is necessary for the proper development of beta cells. A neurogenic differentiation factor 1 (NEUROD1) gene mutation causes beta-cells dysfunction, inadequate insulin secretion, and hyperglycaemia (MODY 6). CASE PRESENTATION: We have documented a new missense mutation (p.Met114Leu c.340A > C) of the NEUROD1 gene, pathogenetic for diabetes mellitus, in a 48 years-old man affected by diabetes since the age of 25 and treated with insulin basal-bolus therapy. Unfortunately, an attempt to replace rapid insulin with dapagliflozin has failed. However, after the genetic diagnosis of MODY6 and treatment with SUs, he was otherwise able to suspend rapid insulin and close glucose monitoring. Interestingly, our patient had an early onset dilated cardiomyopathy, though no data about cardiac diseases in patients with MODY 6 are available. CONCLUSIONS: Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases of genetic diabetes are still misdiagnosed as diabetes type 1 or 2. We encourage to suspect this disease in patients with a strong family history of diabetes, normal BMI, early-onset, and no autoimmunity. The appropriate therapy simplifies disease management and improves the quality of the patient’s life.
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spelling pubmed-85183222021-10-20 NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report Brodosi, Lucia Baracco, Bianca Mantovani, Vilma Pironi, Loris BMC Endocr Disord Case Report BACKGROUND: Maturity Onset Diabetes of the Young (MODY) is a monogenic, autosomal, dominant disease that results in beta-cells dysfunction with consequent hyperglycaemia. It represents a rare form of diabetes (1–2% of all the cases). Sulphonylureas (SUs) represent the first-line treatment for this form of diabetes mellitus. NEUROD1 is expressed by the nervous and the pancreatic tissues, and it is necessary for the proper development of beta cells. A neurogenic differentiation factor 1 (NEUROD1) gene mutation causes beta-cells dysfunction, inadequate insulin secretion, and hyperglycaemia (MODY 6). CASE PRESENTATION: We have documented a new missense mutation (p.Met114Leu c.340A > C) of the NEUROD1 gene, pathogenetic for diabetes mellitus, in a 48 years-old man affected by diabetes since the age of 25 and treated with insulin basal-bolus therapy. Unfortunately, an attempt to replace rapid insulin with dapagliflozin has failed. However, after the genetic diagnosis of MODY6 and treatment with SUs, he was otherwise able to suspend rapid insulin and close glucose monitoring. Interestingly, our patient had an early onset dilated cardiomyopathy, though no data about cardiac diseases in patients with MODY 6 are available. CONCLUSIONS: Diagnostic criteria for MODY can overlap with other kinds of diabetes and most cases of genetic diabetes are still misdiagnosed as diabetes type 1 or 2. We encourage to suspect this disease in patients with a strong family history of diabetes, normal BMI, early-onset, and no autoimmunity. The appropriate therapy simplifies disease management and improves the quality of the patient’s life. BioMed Central 2021-10-15 /pmc/articles/PMC8518322/ /pubmed/34654408 http://dx.doi.org/10.1186/s12902-021-00864-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Brodosi, Lucia
Baracco, Bianca
Mantovani, Vilma
Pironi, Loris
NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
title NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
title_full NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
title_fullStr NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
title_full_unstemmed NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
title_short NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
title_sort neurod1 mutation in an italian patient with maturity onset diabetes of the young 6: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518322/
https://www.ncbi.nlm.nih.gov/pubmed/34654408
http://dx.doi.org/10.1186/s12902-021-00864-w
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