Introduction: MODY is an autosomal dominant inherited type of diabetes that has been diagnosed before the age of 25 and caused by pancreatic β-cell dysfunction. HNF1B-MODY is more rare than other MODY causes and its frequency is between 1-5%. Mutations in HNF1B (MODY 5) are associated with pancreatic agenesis, kidney anomalies, genital system malformations and liver dysfunction.
Case: The patient is 8 years 2 months old girl whom fasting blood glucose level was 370 mg / dl, HbA1c: 13.9%, c-peptide: 0.29. Anti-GAD (+), anti-insulin(-), islet cell antibody (+). In the follow-up period 1 month after the diagnosis of honeymoon period, the patient entered the honeymoon period, which is claimed to be good for the use of a plant mixture of diabetes was learned. During the follow-up, insulin requirement was 0.16 / kg / day at 3 months and insulin was completely discontinued at follow-up. One year after the diagnosis, the baseline rate was found to be 78 mg / dl, c peptide was 0.83. Genetic analysis with suspicion of MODY was found to be heterozygous mutation c.C146G (rs770078634), a new mutation in the HNF 1B gene. In the abdominal ultrasonography of the patient, the pancreas was normal and the kidney had a double collector channel. Liver enzymes were normal.
Result: MODY is mostly seen in adolescence and young adulthood. However, it can be seen at earlier ages. Antibody positivity may initially lead to patients diagnosed with type 1 DM in rare cases. Although our patient was initially diagnosed with Type 1 DM, the need for insulin for a long time in the follow-up period brought MODY to mind. The patient family thought that the patient's diabetes had improved due to herbal remedy until the result of genetics. In patients with type 1 DM, the honeymoon period should be stimulating for MODY.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology