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Key words: Neonatal diabetes mellitus, Sulphonylurea, Potassium channels
Transient and permanent neonatal diabetes mellitus are rare conditions occuring in 1:400,000-500,000 newborns. Transient neonatal diabetes mellitus begins in the first few weeks of life and disappears in a few months with frequent later relapse as permanent type 2 diabetes in adolescence. It is mostly associated to genetic defects of the chromosome 6. Permanent neonatal diabetes requires treatment for life and until recently the genetic etiology was largely unknown. Now we know that the most common cause of permanent neonatal diabetes mellitus is associated with activating mutations in the genes, wich encode the subunits of the ATP-sensitive potassium channels. In this paper, we report the success of the sulphonylurea treatment in a case of permanent neonatal diabetes with activating mutations of KCNJ11.
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