Transfer from Insulin to Sulfonylurea Treatment in a Chinese Patient with Permanent Neonatal Diabetes Mellitus due to a KCNJ11 R201H Mutation

Introduction

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 (K_ATP 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.

References

• 1 Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, Rhijn A van, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT. N Engl J Med. 2004;  350 1838-1849
• 2 Hamilton-Shield JP. Endocr Dev. 2007;  12 12-23
• 3 Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Diabetologia. 2006;  49 1190-1197
• 4 Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT. Neonatal Diabetes International Collaborative Group . N Engl J Med. 2006;  355 467-477
• 5 Min Sun Kim, Sun-Young Kim, Kim GH, Yoo HW, Lee DW, Lee DY. J Korean Med Sci. 2007;  22 616-620
• 6 Proks P, Girard C, Ashcroft FM. Human Molecular Genetics. 2005;  14 2717-2726
• 7 Slingerland AS, Hattersley AT. Ann Med. 2005;  37 186-195
• 8 Polak M, Cavé H. Orphanet J Rare Dis. 2007;  9 2-12
• 9 Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M. Diabet Med. 2008;  25 277-281

Correspondence