ESPE2015 Poster Category 3 Diabetes (94 abstracts)
Background: Neonatal diabetes mellitus (NDM) is a rare (1:300 000400 000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized on clinical grounds, transient NDM (TNDM) and permanent NDM (PNDM).
Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.
Method: Case series study, clinical features, biochemical finding, mutation analysis, and management outcome of 20 cases from 20 unrelated families were study. All exon of KCNJ11, ABCC8, and INS genes were amplified from genomic DNA and directly sequenced. If the mutation of KCNJ11, ABCC8, and INS has failed to detect, methylation specific PCR will be done to detect the loss of methylated region on chromosome 6q24. Patients with ABCC8/KCNJ11 will transfer to sulfonylurea from insulin.
Results: Twenty-one cases (11 girls and ten boys) onset at 7357 days (median 45) of age with gestation age of 38.8±2.3 weeks and birth weight of 2676.2±592.4 g. Ten cases of them admitted with the feature of polydipsia, polyuria and 13 cases with diabetes keton acidosis with pH of 7.15±0.18, HCO3− of 10.0±9.0 mmol/l, BE of −16.1±10.3 mmol/l, blood glucose of 35.7±10.4 mmol/l, and HbA1c of 7.66±2.86%. Mutation analysis showed six have heterozygous for a KCNJ11 missense mutation, five patients with ABCC8 mutations, four patients have abnormal of chromosome 6, five patients with INS mutation, and one patient with EIF2AK3 mutation. The patients have duration of 53±46 months. Four patients with TNDM stop insulin: now all cases have normoglycemic (blood glucose: 5.0 and 5.9 mmol/l), one patient has mild development delay and two patients have normal development. 17 patients with PNDM: 11 cases successfully transferred to sulfonylureas and did not need insulin injections, six cases require insulin, 2/17 cases with DEND syndrome, and 15/17 cases have normal development.
Conclusion: It is important to perform screening gene mutation for patients with diabetes before 12 months of age to control blood glucose and follow up the patients.
01 Oct 2015 - 03 Oct 2015