Neonatal Diyabetes Mellitus Tanısıyla Takip Edilen Hastaların Retrospektif Olarak Değerlendirilmesi

Objective: The aim of the study was to retrospectively evaluate 10 patients who had been diagnosed with neonatal diabetes mellitus (NDM) and followed at our hospital between January 2007 and September 2017. Material and Methods: The study group consisted of 10 pediatric patients diagnosed with NDM and followed and treated at the SBU Ankara Child Health and Disease Hematology Oncology Training and Research Hospital between January 2007 and September 2017. The patients’ demographic information, medical records and treatments were evaluated. Results: Two patients (20%) were male and 8 (80%) were female. The median age of diagnosis was 12.5 days (range 4 to 68.25 days). Three (30%) patients had no consanguinity and seven (70%) patients had a history of cousin marriages in their parents. The most common complaints were frequent urination, fatigue, vomiting and hyperglycemia detected with laboratory investigations performed due to low birth weight. Genetic mutation was detected in three (30%) patients. These mutations were homozygous mutation in the SLC2A2 gene, homozygous mutation in the IPF1 gene, and homozygous deletion in the exon 3 in the INSR gene. One patient was diagnosed with the Wollcott-Rallison syndrome and another was diagnosed with the Fanconi-Bickel syndrome. At the time of admission; insulin infusion therapy and hydration were used for 9 (90%) patients and subcutaneous (sc) insulin therapy for one (10%) patient. The hyperglycaemia was taken under control and then sc insulin (short or moderate duration of action) therapy was given. Insulin pump therapy was tried in one patient. There was no patient who took oral antidiabetic therapy. Conclusion: In the first 6 months of life, NDM should be kept in mind in cases of hyperglycaemia requiring insulin therapy for more than two weeks. Genetic analysis should be performed on all patients diagnosed with NDM and the treatment options should be reassessed according to the outcome. All patients, including those with transient NDM, should be followed up. Neonatal DM is an important life-threatening disease and needs further study regarding the frequency, clinical course and treatment.