Abstract
Neonatal diabetes mellitus (NDM) is a rare and specific type of diabetes which is characterized by onset of hyperglycemia within the first 6 months of life. The reported incidence of NDM is 1:300 000–400 000 in newborns [1] [2]. It is clinically classified into two groups: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). TNDM usually spontaneously resolves within the first months of life, with possible recurrence in childhood or adolescent stage. It represents 50% to 60% of cases of NDM, and is often associated with an abnormality of the imprinted region of 6q24 [1] [3]. In contrast, PNDM needs a lifelong medication. It has been recognized that heterozygous activating mutation in the KCNJ11 gene which encodes the Kir6.2 subunits of the ATP sensitive K+ channel (KATP channel) is a major cause of PNDM [1] [3]. And cases have been reported in which a better glycemic control was obtained after initiation of oral sulfonylurea treatment compared to insulin therapy [4] [5]. Here we report the first Chinese case of PNDM with a KCNJ11 R201H mutation and the successful transition from insulin injections to oral sulfonylurea therapy.
Published Version
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