Abstract
Objective:
To study the genetic mutations and clinical profile in children with neonatal diabetes mellitus.
Methods:
Genetic evaluation, clinical management and follow-up of infants with neonatal diabetes.
Results:
Eleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mutations were identified in 7 (63.6%) children; 3 infants with mutations in KCNJ11 gene and 1 in ABCC8 were switched to oral sulfonylureas; 2 infants had mutations in INS and 1 in ZFP57.
Conclusion:
Neonatal diabetes mellitus is a heterogeneous disorder. Identification of genetic cause guides clinical management.
MeSH terms
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Diabetes Mellitus* / diagnosis
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Diabetes Mellitus* / drug therapy
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Diabetes Mellitus* / genetics
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Diabetic Ketoacidosis* / diagnosis
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Diabetic Ketoacidosis* / drug therapy
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Diabetic Ketoacidosis* / genetics
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Female
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Humans
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Hypoglycemic Agents / therapeutic use
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India
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Infant, Newborn
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Infant, Newborn, Diseases* / diagnosis
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Infant, Newborn, Diseases* / drug therapy
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Infant, Newborn, Diseases* / genetics
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Insulin / genetics
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Insulin / therapeutic use
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Male
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Mutation / genetics
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Potassium Channels, Inwardly Rectifying / genetics
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Sulfonylurea Compounds / therapeutic use
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Sulfonylurea Receptors / genetics
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Tertiary Care Centers
Substances
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ABCC8 protein, human
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Hypoglycemic Agents
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Insulin
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Kir6.2 channel
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Potassium Channels, Inwardly Rectifying
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Sulfonylurea Compounds
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Sulfonylurea Receptors
Supplementary concepts
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Diabetes Mellitus, Permanent Neonatal