First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
المؤلفون المشاركون
Koufakis, Theocharis
Kotsa, Kalliopi
Sertedaki, Amalia
Tatsi, Elizabeth-Barbara
Trakatelli, Christina-Maria
Manthou, Eleni
Kanaka-Gantenbein, Christina
Karras, Spyridon
المصدر
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-04-11
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1136024
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر