Neonatal diabetes in an infant of a diabetic mother: same novel INS missense mutation in the mother and her offspring

摘要

Neonatal diabetes is defined as an uncontrolled hyperglycemic state occurring within the first 6 months of life. It is a rare disease with an incidence of 1 to 90,000-250,000. It is usually a disease of genetic origin in which insulin gene mutations play the main role in the disease process. A baby, bom to a mother who had previously been diagnosed with type 1 diabetes mellitus at 14 months of age, had a high blood sugar level within the first few hours after birth and was subsequently diagnosed as having neonatal diabetes mellitus. Baby and mother were identified as having a novel heterozygous insulin missense mutation, p.C109R. Difficulties occurred in both follow-up and feeding of the baby. Without the addition of the mother's milk, an appropriate calorie milk formula and isophane insulin were used for the baby during follow-up. Multiple mechanisms are responsible in the pathogenesis of neonatal diabetes mellitus. Insulin gene mutations are one of the factors in the development of neonatal diabetes mellitus. If a resistant hyperglycemic state persists for a long time among babies, especially in those with intrauterine growth retardation whose mothers are diabetic, the baby concerned should be followed-up carefully for the development of neonatal diabetes mellitus.