ESPE Abstracts

We report three cases of neonatal diabetes from Kazakhstan, Almaty with the KCNJ11 gene mutation who were successfully switched from insulin to sulphonylurea treatment and 1 case of insulin (INS) gene mutation that presented as permanent insulin dependent neonatal diabetes.

Case 1: An 1 month old girl presented with elevated glucose level, dehydation, ketoacidosis and was treated with Insulin. HbA1c at diagnosis was 10%. Heterozygous missense mutation in the KCNJ11 gene, exon 1, c.685G>A, p.Glu229Lys (p.E229K) was identified. At 18 months diabetes resolved. Mother has the same heterozygous missense mutation in the KCNJ11 gene, exon 1, c.685G>A, p.Glu229Lys (p.E229K). She was treated with Glibenclamide, which has normalized her glucose levels.

Case 2: A 2 months old boy presented with elevated glucose level, dehydation, ketoacidosis and was treated with Insulin. HbA1c at diagnosis was 11%. Heterozygous de novo missense mutation KCNJ11 gene, exon 1, c.602G>A, p.Arg201 was identified. Both parents do not have this mutation. He was treated with Glibenclamide which has improved his glucose level.

Case 3: A 3 months old boy presented with elevated glucose level, dehydration and was treated with Insulin. HbA1c at diagnosis was 9%. Heterozygous de novo missense mutation KCNJ11 gene, exon 1, p.Gly53Asp (p.G53D), DNA c.158G>A was identified. Both parents do not have this mutation. He was treated with Glibenclamide which has improved his glucose level.

Case 4: A 1 month old girl presented with elevated glucose level, dehydration and was treated with Insulin. HbA1c at diagnosis was 9%. Heterozygous mutation in INS gen c.64G>C p.A22P was identified. Both parents do not have this mutation. She continues to have insulin dependent diabetes.

Conclusion: Genetic testing of neonatal diabetes can change treatment and prognosis. Heterozygous missense mutations such as p.Glu229Lys, p.Arg201His, p.Gly53Asp in the KCNJ11 gene can present as transient or permanent neonatal diabetes. Missense mutaiton p.A22P in the INS gene can present as permanent neonatal diabetes.