Neonatal Diabetes

Genetic Susceptibility to Transient and Permanent Neonatal Diabetes Mellitus

Neonatal diabetes mellitus (NDM) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. Clinically, it is categorized into two main types: transient NDM (TNDM) and permanent NDM (PNDM). These types are diagnosed based on duration of insulin dependence early in the disease. In TNDM, diabetes begins in the first few weeks of life with remission in a few months. Howev...

Clinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene

Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...

Molecular basis of transient neonatal diabetes mellitus in Japan: frequent KATP-TNDM and identification of a patient with a monoallelic INS mutation

Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes

OBJECTIVE Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalities are the most common cause. RESEARCH DESIGN AND METHODS We report a sporadic case of diabetes wi...

Neonatal diabetes mellitus.

Neonatal diabetes mellitus is a rare form of insulin dependent diabetes mellitus that present within the first month of life, lasting at least two weeks and requiring insulin therapy. Intrauterine growth restriction, failure to thrive, fever, dehydration, hyperglycemia and acidosis with or without ketonuria are the clinical features of the disease. We report four cases of neonatal diabetes mell...

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.

Closure of ATP-sensitive K(+) channels (K(ATP) channels) in response to metabolically generated ATP or binding of sulfonylurea drugs stimulates insulin release from pancreatic beta-cells. Heterozygous gain-of-function mutations in the KCJN11 gene encoding the Kir6.2 subunit of this channel are found in approximately 47% of patients diagnosed with permanent diabetes at <6 months of age. There is...