GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2
| Author | Shahab Noorian | en |
| Author | Fatemeh Sayarifard | en |
| Author | Elham Farhadi | en |
| Author | Fabrizio Barbetti | en |
| Author | Nima Rezaei | en |
| Issued Date | 2013-04-30 | en |
| Abstract | Background: Maturity onset diabetes of the young type 2 (MODY) is an inherited disorder due to mutations in glucokinase (GCK) gene, which lead to mild fasting hyperglycemia. Case Presentation: Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 (c.1010delA) in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication. Conclusion: The identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes. | en |
| DOI | https://doi.org/ | en |
| Keyword | Maturity-onset Diabetes | en |
| Keyword | GCK | en |
| Keyword | Fasting Hyperglycemia | en |
| Keyword | Diabetes | en |
| Publisher | Brieflands | en |
| Title | GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2 | en |
| Type | Case Report | en |
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