We described a family in which MODY-GCK was detected in 6 people and its course varied.
Materials and methods: The diagnosis of GCK-MODY was verified by the proband and his relatives on the basis of direct automatic sequencing and sequencing by Sanger.
Results: Proband a boy of 12 years, diabetes mellitus (DM) type 1 is diagnosed at the age of 11 years. He felt polydipsia, polyuria. Body weight was normal, he has not any diseases and complicates of DM. Antibodies to b-cells, GAD were negative, level of C-peptide was 250 pmol/l (normal ranges: 2982350 pmol/l), HbA1c 7.4%, prevalent fasting glycemia, postprandial increased to 9.3 mmol/l. He was treated by insulin glargin 6 U and aspart 10 U/day, had frequent hypoglycemia. When diagnosing diabetes in the boy we examined his sister, 10 years. DM was diagnosed, she had not any complaints. She had diagnosis DM type 2. Body weight was normal, she has not any diseases and complicates of DM. Antibodies to b-cells, GAD were negative, level of C-peptide was 290 pmol/l (normal ranges: 2982350 pmol/l), HbA1c 7.1%, prevalent fasting glycemia. She was treated by diet. Also diabetes was diagnosed in the grandmother of a proband in 40 years, use oral hypoglycemic drugs, does not have diabetic complications; in probands father, 38 years, when we examined all relatives, he had not complaints, use diet; in fathers brother in 35 years, he had frequent viral infections and was examined, use oral hypoglycemic drugs; his son (cousin of proband), was diagnosed in examination, use diet. All patients had fasting hyperglycemia, normal body weight, C-peptide level was normal, antibodies to b-cells and GAD were absent. The GCK gene was studied given the strong family history of diabetes and clinical characteristics. A heterozygous mutation c.752T>C:p.M251T in the GCK gene was diagnosed in all six patients (proband, sister, they father, fathers brother, his son, a grandmother).
The conclusion: This case shows a different clinical course, the use of different hypoglycemic therapies (diet, oral medications and insulin) in relatives of one family with MODY-GCK diabetes.
This work has been supported by the Russian Science Foundation (No. 14-15-00496-P).
27 - 29 Sep 2018
European Society for Paediatric Endocrinology