ESPE Abstracts

Neonatal diabetes (ND) occurs in 1/100,000-150,000 newborns with hyperglycemia in the first six months of life, requiring insulin treatment for at least two weeks, with no autoimmune basis. Two forms are described, transitory (TND) and permanent (PND). In 50% cases of TND, remission presents within the first year of life, only to relapse later before puberty in 50% of cases.

CASE 1: Newborn with sustained hyperglycemia since the third day of life, requiring insulin perfusion. His mother had been diagnosed with T1DM in severe ketoacidosis in her third month of life. Not ketosis. Negative pancreatic autoimmunity. A heterozygous pathogenic variant of exon 1 of the KCNJ11 gene (p.Arg201His, c602G>A) was detected in mother and child. At 3.8 months of life, he was switched to sulfonylurea therapy according to the GIND protocol, with current Glibenclaminda requirements of 0.08 mg/kg/day.

CASE 2: Male newborn with sustained hyperglycemia from the 4th day of life requiring insulin infusion at 0.02U/kg/hour for control. Mother diagnosed with T1DM at 9 years of age, with ketoacidosis. Grandmother diagnosed at 38 years old, on insulin therapy. Negative pancreatic autoimmunity. A heterozygous mutation of exon 21 of the ABBC8 gene (p.C24982G>c, GLy.833G>Ala) was detected in the mother, grandmother and son. The three generations were switched to sulfonylurea therapy. Glibenclamide was suspended at 7 years of life, being reintroduced at 9 years with a current dose of 0.010 mg/kg/day.

CASE 3: Male newborn with persistent hyperglycemia since the first day of life, his mother was diagnosed with gestational diabetes. Small for gestational age. Negative pancreatic autoimmunity. Uniparental Unidisomia 6q24 was detected. Insulin therapy was required at a dose of 0.5UI/kg/day. Treatment with glibenclamide was started, but the patient refused it after 2 years. At 7.5 years occasional hyperglycemia, at 8 years already maintained.

CASE 4: 6-month-old infant admitted for nocturia. healthy parents. Normal neonatal anthropometry. Glucose 250 mg/dl, HbA1c 11%. Insulin 0.6 mIU/ml, C-Peptide 0.58ng/dl. Negative pancreatic autoimmunity. A heterozygous pathogenic variant is detected in exon 2 of the INS gene (p.gly32Ser,c.94G>A). Insulin therapy is started, which is currently maintained at 0.8-1 IU/kg/day.

Conclusions: We must request a genetic study for patients diagnosed with diabetes in the first six months of life, whatever their current age, in order to identify its etiology and a possible switch to Sulfonylureas, improving their metabolic profile and quality of life.