Significats de neonatal diabetes en anglès

Interestingly, the patients did not develop neonatal diabetes but childhood-onset diabetes.

Conclusions: Mutations in the same residue can cause either hyperinsulinemia or neonatal diabetes.

This may have implications for the choice of sulfonylurea used to treat neonatal diabetes.

Conclusions: Severe deficiency of neurogenin 3 causes a rare novel subtype of permanent neonatal diabetes.

We sought to understand why mutations at the same residue can cause either neonatal diabetes or hyperinsulinemia.

Sulfonylureas, which stimulate insulin secretion from pancreatic β-cells, are widely used to treat both type 2 diabetes and neonatal diabetes.

Majority of mutations cause neonatal diabetes alone, however some lead to a severe form of neonatal diabetes with associated neurological complications.

Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel which cause neonatal diabetes.

This difference in MgATP inhibition may explain the difference in resting whole-cell currents found for the neonatal diabetes and hyperinsulinemia mutations.

Heterozygous loss-of-function mutations in NEUROD1 have been identified as a very rare cause of maturity-onset diabetes of the young and neonatal diabetes.

Gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause neonatal diabetes.

In human infants with a similar autosomal recessive syndrome of neonatal diabetes, genetic mapping and subsequent sequencing identified mutations in the human RFX6 gene.

We hypothesized that null mutations in NEUROG3 might be responsible for the disease in a patient with permanent neonatal diabetes and severe congenital malabsorptive diarrhea.

In humans, recessive NKX2-2 gene mutations have been recently reported as a novel etiology for neonatal diabetes, with only 3 cases known worldwide.

This study describes the genetic analysis, distinctive clinical features, the therapeutic challenges, and the unique pathophysiology causing neonatal diabetes in human NKX2-2 dysfunction.