<p>Recent Advances in Neonatal Diabetes</p>

Abstract

Neonatal diabetes mellitus (DM) is defined by the onset of persistent hyperglycemia within the first six months of life but may present up to 12 months of life. A gene mutation affecting pancreatic beta cells or synthesis/secretion of insulin is present in more than 80% of the children with neonatal diabetes. Neonatal DM can be transient, permanent, or be a component of a syndrome. Genetic testing is important as a specific genetic mutation can significantly alter the treatment and outcome. Patients with mutations of either KCNJ11 or ABCC8 that encode subunits of the K ATP channel gene mutation can be managed with sulfonylurea oral therapy while patients with other genetic mutations require insulin treatment.

A rare duplication in the PLAG1 gene: A case of neonatal diabetes

“…Written informed consent was obtained from the patient's parents to publish the case report and images. Molecular genetic diagnosis is necessary for babies with persistent hyperglycemia in terms of prognosis and treatment options (1,2). We also conducted a genetic test analysis in our case and found developed due to a rare de novo duplication in the 6q24 chromosome.…”

“…Neonatal diabetes mellitus (NDM) is a genetic disease that occurs in the first 6 months of life and is characterized by hyperglycemia (1,2). It is generally estimated that one in 300,000-400,000 newborns have this disease although this can vary widely based on location, primarily dependent on rates of consanguinity (3,4).…”

Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up

“…The number of genes that are found in children with neonatal diabetes continues to increase and there are more than 20 known genetic causes for NDM. [7][8][9][10] The various genes are associated with specific inheritance pattern, phenotype, and clinical features. 7 In a large series of 1020 patients diagnosed with NDM before 6 months of age, mutations in the potassium channel genes, KCNJ11 and ABCC8, were found in 38.2% of neonatal diabetes but were identified less frequently in consanguineous families.…”

“…[7][8][9][10] The various genes are associated with specific inheritance pattern, phenotype, and clinical features. 7 In a large series of 1020 patients diagnosed with NDM before 6 months of age, mutations in the potassium channel genes, KCNJ11 and ABCC8, were found in 38.2% of neonatal diabetes but were identified less frequently in consanguineous families. 7 The clinical presentation varies from incidentally detected asymptomatic hyperglycaemia to severe dehydration and diabetic ketoacidosis (DKA).…”

“…7 In a large series of 1020 patients diagnosed with NDM before 6 months of age, mutations in the potassium channel genes, KCNJ11 and ABCC8, were found in 38.2% of neonatal diabetes but were identified less frequently in consanguineous families. 7 The clinical presentation varies from incidentally detected asymptomatic hyperglycaemia to severe dehydration and diabetic ketoacidosis (DKA). 11 A genetic diagnosis is crucial, because at least 90% of patients can transfer from insulin injections to oral SU.…”