Problems of the differential diagnosis of MODY3 in obesity
Сечко Е. А., Андрианова Е. А., Иванова О. Н., Кураева Т. Л.
Проблемы эндокринологии
Т. 64, Вып. 2, С. 116-120
Опубликовано: 2018
Тип ресурса: Статья
Аннотация:
MODY3 is one of the most common subtypes of MODY. Obesity in MODY3 patients modifies the disease course and complicates diagnostics at the clinical stage. A proband was diagnosed with type 2 diabetes mellitus (T2DM) at the age of 12 years; metformin therapy was used. A family history of DM involves three generations: The mother, aunt, and maternal grandfather have suffered from insulin-dependent DM since the age of 23, 22, and 40 years, respectively. The patient was examined at the age of 14 years. Obesity was present (SDS BMI 2.3). The insulin and C-peptide levels were 4.4 μU/mL and 1.5 ng/mL, respectively. The HbA1c level was 7.3[%]. Under glucose load, glycemia reached diabetic values; hyperinsulinemia and insulin resistance were not detected. Specific pancreatic antibodies were absent. Metformin was discontinued, and a sulfonylurea (SU) drug was prescribed, which had a positive effect. The heterozygous mutation p.P291fs was identified in the HNF1A gene. Therefore, MODY3 was verified.
Ключевые слова:
Case report.; MODY3; Monogenic diabetes mellitus; Obesity
Язык текста: Русский
ISSN: 2308-1430
Сечко Е. А.
Андрианова Е. А.
Иванова О. Н.
Кураева Т. Л. Тамара Леонидовна 1947-
Sechko E. A.
Andrianova E. A.
Ivanova O. N.
Kuraeva T. L. Tamara Leonidovna 1947-
Problems of the differential diagnosis of MODY3 in obesity
Текст визуальный непосредственный
Проблемы эндокринологии
Издательство Медиа Сфера
Т. 64, Вып. 2 С. 116-120
2018
Статья
Case report. MODY3 Monogenic diabetes mellitus Obesity
MODY3 is one of the most common subtypes of MODY. Obesity in MODY3 patients modifies the disease course and complicates diagnostics at the clinical stage. A proband was diagnosed with type 2 diabetes mellitus (T2DM) at the age of 12 years; metformin therapy was used. A family history of DM involves three generations: The mother, aunt, and maternal grandfather have suffered from insulin-dependent DM since the age of 23, 22, and 40 years, respectively. The patient was examined at the age of 14 years. Obesity was present (SDS BMI 2.3). The insulin and C-peptide levels were 4.4 μU/mL and 1.5 ng/mL, respectively. The HbA1c level was 7.3[%]. Under glucose load, glycemia reached diabetic values; hyperinsulinemia and insulin resistance were not detected. Specific pancreatic antibodies were absent. Metformin was discontinued, and a sulfonylurea (SU) drug was prescribed, which had a positive effect. The heterozygous mutation p.P291fs was identified in the HNF1A gene. Therefore, MODY3 was verified.