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A familial case of insulin-dependent diabetes mellitus with a mutation in the PTF1A gene
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01.01.2018 |
Svetlova G.
Kuraeva T.
Sechko E.
Peterkova V.
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Problemy Endokrinologii |
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0 |
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Copyright © 2018 by the MediaSphere. Diabetes mellitus (DM) is a genetically heterogeneous disease, and some cases of type 1 diabetes mellitus (T1DM) are caused by a mutation of one gene. The child has suffered from brittle diabetes since the age of 1 year and received insulin. The HbA1c level is 9.9-11.4%. The patient was examined at the age of 14 years; the disease duration is 13 years. The daily dose of insulin is 1.15-1.35 U/kg. DM complications include initial manifestations of distal diabetic polyneuropathy as well as cheiropathy. The mother (39 years) and grandmother (74 years) have T1DM with multiple complications. A genetic study revealed that all three family members had a heterozygous substitution p.P274 in the PTF1A gene with an unknown pathological significance. At present, it can not be asserted that the identified mutation is the etiologic factor of diabetes in the described case. We can not exclude T1DM in this child because specific antibodies have not been tested. However, the mutation is detected in all three members of the same family with diabetes, which does not exclude the discovery of a new form of MODY, not described earlier.
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Problems of the differential diagnosis of MODY3 in obesity
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01.01.2018 |
Sechko E.
Andrianova E.
Ivanova O.
Kuraeva T.
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Problemy Endokrinologii |
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0 |
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Copyright © 2018 by the MediaSphere. 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. The presence of concomitant obesity in the patient significantly complicates the differential diagnosis, and only a careful comprehensive analysis of clinical and laboratory parameters and a family history makes it possible to suspect the diagnosis of MODY3 (requiring subsequent molecular genetic verification) and prescribe pathogenetic therapy.
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