ECE2019 Poster Presentations Diabetes, Obesity and Metabolism 1 (104 abstracts)
Large phenotypic variability of diabetes due to ABCC8 gene mutation illustrated by the paradigm of a family
Theocharis Koufakis 1 , Amalia Sertedaki 2 , Elizabeth-Barbara Tatsi 2 , Christina-Maria Trakatelli 1 , Spyridon Karras 1 , Christina Kanaka-Gantenbein 2 & Kalliopi Kotsa 1
1Division of Endocrinology and Metabolism and Diabetes Center, First Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece; 2Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece.
Background: 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.
Methods: Case report.
Results: We describe a case of a young patient who presented with hyperglycemia in the absence of ketosis and following genetic testing, he proved to harbor the R1352H 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. We present our diagnostic and therapeutic approach and suggest a theoretical framework to explain the association between the cellular alterations resulting from genetic variation and the clinical presentation of the described case.
Conclusions: Given that there is no definite consensus regarding the management of such cases and that relative clinical data are still inadequate, close clinical follow-up and individualized treatment are required, in order for these patients to achieve metabolic targets and avoid long-term diabetic complications.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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