NEUROD1 mutation in an Italian patient with maturity onset diabetes of the young 6: a case report
Autor: | Vilma Mantovani, Loris Pironi, Lucia Brodosi, Bianca Baracco |
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Přispěvatelé: | Brodosi L., Baracco B., Mantovani V., Pironi L. |
Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
Blood Glucose
Male Pediatrics medicine.medical_specialty Endocrinology Diabetes and Metabolism medicine.medical_treatment Basic Helix-Loop-Helix Transcription Factor Mutation Missense Case Report Disease Gene mutation Maturity onset diabetes of the young Diseases of the endocrine glands. Clinical endocrinology chemistry.chemical_compound Insulin-Secreting Cells Diabetes mellitus Insulin Secretion Basic Helix-Loop-Helix Transcription Factors medicine Humans Dapagliflozin business.industry Insulin General Medicine Middle Aged medicine.disease RC648-665 Pedigree chemistry Diabetes Mellitus Type 2 Italy Insulin-Secreting Cell NEUROD1 Case report. MODY 6. NEUROD1. Hyperglycaemia. Sulphonylureas. Cardiomyopathy MODY 6 business Human |
Zdroj: | BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-7 (2021) BMC Endocrine Disorders |
ISSN: | 1472-6823 |
Popis: | 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. |
Databáze: | OpenAIRE |
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