Abstract
BackgroundPermanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with persistence through life. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. Currently, there are limited studies about the genetic analysis and long-term follow-up of PNDM.Case presentationWe report four cases of PNDM. None of the infants or their parents had INS, KCNJ11, or ABCC8 genetic mutations. One infant underwent continuous subcutaneous insulin infusion (CSII) and the other infants underwent multiple injections of insulin (MII). In these infants, PNDM persisted from 35 months to 60 months of follow-up. Three infants maintained fairly stable blood sugar levels, and one infant had poor sugar control.ConclusionsWe suggest that all of the infants with PNDM should undergo genetic evaluation. For infants without KCNJ11 and ABCC8 genetic mutations, oral sulfonylurea should not be considered as treatment. CSII is a useful method for overcoming the difficulties of diabetes, and it may also improve the quality of life of both infants and their parents.
Highlights
Permanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with persistence through life
For infants without KCNJ11 and ABCC8 genetic mutations, oral sulfonylurea should not be considered as treatment
continuous subcutaneous insulin infusion (CSII) is a useful method for overcoming the difficulties of diabetes, and it may improve the quality of life of both infants and their parents
Summary
NDM is a rare disease, and is classified as TNDM or PNDM if the symptoms are resolved or continuous after 18 months of birth. Syndromic forms of neonatal diabetes can be caused by mutations in FOXP3, PTF1A, GLIS3, NEUROD1, RFX6, NEUROG3, EIF2AK3, GATA6, SLC19A2, HNF1B, PAX6, and WFS1 The infants in these cases did not have any syndromic features, and we did not test for those genes. The genetic characteristics of the infant in Case 2 most likely explains why the attempted sulfonylurea treatment failed Apart from those with KCNJ11 or ABCC8 mutations, insulin is the mainstay of treatment of PNDM, there is evidence that sulfonylurea treatment could worsen beta-cell apoptosis [7]. We think that infants with PNDM should be treated with oral sulfonylureas only after the genetic analysis shows KCNJ11 or ABCC8 mutations. We recommend that all the infants with PNDM should undergo genetic analysis before oral sulfonylurea treatment.
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