Maturity-onset diabetes of the young: difficult differential diagnosis
DOI: 10.32364/2587-6821-2020-4-6-372-376
K.G. Lobanova, V.V. Titova, K.S. Dolgova
Pirogov Russian National Research Medical University, Moscow, Russian Federation
Maturity-onset diabetes of the young (MODY) is a monogenic variant of diabetes characterized by the primary dysfunctions of pancreatic β-cells. MODY accounts for 1–2% of all variants of diabetes. MODY is generally associated with HNF1A gene mutation. The hallmarks of MODY are an autosomal dominant inheritance pattern, the onset of the disease in the young age, stable C-peptide level over a long period, the lack of the autoantibodies considered as the markers of diabetes, and the lack of ketoacidosis at disease onset. Considering that MODY manifests in children and young individuals, these patients are commonly diagnosed with type 1 diabetes. However, due to the atypical clinical signs of type 1 diabetes and the similarity of this disease to type 2 diabetes, these patients are often misdiagnosed with type 2 diabetes. This case report illustrates the differential diagnosis of diabetes in a patient with unusual disease course. The attention is focused on the features of MODY course. The indications to molecular genetic testing to verify the diagnosis are
addressed.
Keywords: diabetes, maturity-onset diabetes of the young, monogenic diabetes, sulfonylureas, molecular genetic testing, LADA, pancreatogenic diabetes.
For citation: Lobanova K.G., Titova V.V., Dolgova K.S. Maturity-onset diabetes of the young: difficult differential diagnosis. Russian Medical Inquiry. 2020;4(6):372–376. DOI: 10.32364/2587-6821-2020-4-6-372-376.
About the authors:
Kristina G. Lobanova — Assistant of the Department of Endocrinology of the Medical Faculty, Pirogov Russian National Research Medical University, 1, Ostrovityanov str., Moscow, 117437, Russian Federation; ORCID iD 0000-0002-3656-0312.
Viktoria V. Titova — Assistant of the Department of Endocrinology of the Medical Faculty, Pirogov Russian National Research Medical University, 1, Ostrovityanov str., Moscow, 117437, Russian Federation; ORCID iD 0000-0002-8684-6095.
Kristina S. Dolgova — clinical resident of the Department of Endocrinology of the Medical Faculty, Pirogov Russian National Research Medical University, 1, Ostrovityanov str., Moscow, 117437, Russian Federation; ORCID iD 0000-0001-8859-6790.
Contact information: Kristina G. Lobanova, e-mail: miss.sapog@mail.ru. Financial Disclosure: no authors have a financial or property interest in any material or method mentioned. There is no conflict of interests. Received 21.07.2020, revised 09.08.2020, accepted 17.08.2020.
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