First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
Joint Authors
Koufakis, Theocharis
Kotsa, Kalliopi
Sertedaki, Amalia
Tatsi, Elizabeth-Barbara
Trakatelli, Christina-Maria
Manthou, Eleni
Kanaka-Gantenbein, Christina
Karras, Spyridon
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-04-11
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members.
In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c.4058G>A) mutation in the ABCC8 gene, inherited from his mother.
This mutation has been previously described in patients with Congenital Hyperinsulinism.
Furthermore, different mutations in the ABCC8 gene have been linked with MODY 12, type 2, and gestational diabetes; however, to the best of our knowledge, this is the first report that associates this specific mutation with diabetes phenotype.
ABCC8-related diabetes is characterized by remarkable heterogeneity in terms of clinical presentation and therapeutic approach.
Early diagnosis and individualized treatment are essential to achieving metabolic targets and avoiding long-term diabetes complications.
American Psychological Association (APA)
Koufakis, Theocharis& Sertedaki, Amalia& Tatsi, Elizabeth-Barbara& Trakatelli, Christina-Maria& Karras, Spyridon& Manthou, Eleni…[et al.]. 2019. First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136024
Modern Language Association (MLA)
Koufakis, Theocharis…[et al.]. First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism. Case Reports in Genetics No. 2019 (2019), pp.1-5.
https://search.emarefa.net/detail/BIM-1136024
American Medical Association (AMA)
Koufakis, Theocharis& Sertedaki, Amalia& Tatsi, Elizabeth-Barbara& Trakatelli, Christina-Maria& Karras, Spyridon& Manthou, Eleni…[et al.]. First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-5.
https://search.emarefa.net/detail/BIM-1136024
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136024