Neonatal diabetes: case report and topic review.
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Abstract
Background: Neonatal diabetes is defined as persistent hyperglycemia that occurs most frequently before six months of age, and its incidence is 1 case per 90,000 to 160,000 births. Neonatal diabetes is associated with pathogenic variants in a single gene, causing hyperglycemia, intrauterine growth restriction, low birth weight, and neurodevelopmental abnormalities. It is classified as transient, permanent, or syndromic. Insulins are the initial treatment; sulfonylureas have proven effective for controlling hyperglycemia due to etiology originating in the KCNJ11 and ABCC8 genes. Sulfonylureas improve motor ability and neurodevelopment, primarily if the disease is related to KCNJ11. Case report: Male neonate diagnosed with neonatal diabetes due to persistent hyperglycemia three weeks after birth, in which the ABCC8 gene mutation was confirmed. A multidisciplinary group is monitoring him. Treatment was characterized by using insulin glulisine, insulin glargine, and the transition to management with sulfonylurea. Glycemic control has been achieved without compromise in neurodevelopment and with satisfactory growth at follow-up.
Conclusions: This case report describes the clinical and genetic diagnosis of DN due to ABCC8 gene mutation, where clinical characteristics of the disease can be observed, such as intrauterine growth restriction, low birth weight, hyperglycemia that requires treatment with insulins, diagnostic confirmation through medical genetics and treatment consistent with the transition from insulin use to sulfonylurea management.
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