Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2-initial and long-term response to sulfonylurea therapy

Verena M. Wagner, Britta Kremke, Olaf Hiort, Sarah E. Flanagan, Ewan R. Pearson

    Research output: Contribution to journalArticle

    9 Citations (Scopus)

    Abstract

    Mutations in the KCNJ11 gene encoding the adenosine triphosphate (ATP)-sensitive potassium channel (K-ATP) subunit Kir6.2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion in patients with KCNJ11 mutations.

    We report a 9-year-old boy who presented at the age of three months with diabetic ketoacidosis. Results Sequencing of the KCNJ11 gene revealed an R201H mutation. Therefore, he was transferred from insulin to oral SU therapy. He required a high-threshold dose before insulin could be discontinued. After transition, a subsequent dose reduction was necessary to avoid hypoglycemia. Improved sustained metabolic control without complications was achieved on a low SU maintenance dose twice daily over 36 months.

    SU therapy is safe for patients with diabetes due to KCNJ11 mutations. The mechanism of a threshold dose and the twice-daily requirement needs further attention.

    Original languageEnglish
    Pages (from-to)359-361
    Number of pages3
    JournalEuropean Journal of Pediatrics
    Volume168
    Issue number3
    DOIs
    Publication statusPublished - Mar 2009

    Keywords

    • Children
    • Diabetes mellitus
    • Drug therapy
    • Kir6.2 channel
    • Sulfonylurea receptor
    • ACTIVATING MUTATIONS
    • KIR6.2 MUTATIONS
    • MELLITUS
    • GENE

    Cite this

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    title = "Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2-initial and long-term response to sulfonylurea therapy",
    abstract = "Mutations in the KCNJ11 gene encoding the adenosine triphosphate (ATP)-sensitive potassium channel (K-ATP) subunit Kir6.2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion in patients with KCNJ11 mutations.We report a 9-year-old boy who presented at the age of three months with diabetic ketoacidosis. Results Sequencing of the KCNJ11 gene revealed an R201H mutation. Therefore, he was transferred from insulin to oral SU therapy. He required a high-threshold dose before insulin could be discontinued. After transition, a subsequent dose reduction was necessary to avoid hypoglycemia. Improved sustained metabolic control without complications was achieved on a low SU maintenance dose twice daily over 36 months.SU therapy is safe for patients with diabetes due to KCNJ11 mutations. The mechanism of a threshold dose and the twice-daily requirement needs further attention.",
    keywords = "Children, Diabetes mellitus, Drug therapy, Kir6.2 channel, Sulfonylurea receptor, ACTIVATING MUTATIONS, KIR6.2 MUTATIONS, MELLITUS, GENE",
    author = "Wagner, {Verena M.} and Britta Kremke and Olaf Hiort and Flanagan, {Sarah E.} and Pearson, {Ewan R.}",
    year = "2009",
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    doi = "10.1007/s00431-008-0757-3",
    language = "English",
    volume = "168",
    pages = "359--361",
    journal = "European Journal of Pediatrics",
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    Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2-initial and long-term response to sulfonylurea therapy. / Wagner, Verena M.; Kremke, Britta; Hiort, Olaf; Flanagan, Sarah E.; Pearson, Ewan R.

    In: European Journal of Pediatrics, Vol. 168, No. 3, 03.2009, p. 359-361.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2-initial and long-term response to sulfonylurea therapy

    AU - Wagner, Verena M.

    AU - Kremke, Britta

    AU - Hiort, Olaf

    AU - Flanagan, Sarah E.

    AU - Pearson, Ewan R.

    PY - 2009/3

    Y1 - 2009/3

    N2 - Mutations in the KCNJ11 gene encoding the adenosine triphosphate (ATP)-sensitive potassium channel (K-ATP) subunit Kir6.2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion in patients with KCNJ11 mutations.We report a 9-year-old boy who presented at the age of three months with diabetic ketoacidosis. Results Sequencing of the KCNJ11 gene revealed an R201H mutation. Therefore, he was transferred from insulin to oral SU therapy. He required a high-threshold dose before insulin could be discontinued. After transition, a subsequent dose reduction was necessary to avoid hypoglycemia. Improved sustained metabolic control without complications was achieved on a low SU maintenance dose twice daily over 36 months.SU therapy is safe for patients with diabetes due to KCNJ11 mutations. The mechanism of a threshold dose and the twice-daily requirement needs further attention.

    AB - Mutations in the KCNJ11 gene encoding the adenosine triphosphate (ATP)-sensitive potassium channel (K-ATP) subunit Kir6.2 are the most frequent cause of diabetes in infancy. Sulfonylurea (SU) treatment restores insulin secretion in patients with KCNJ11 mutations.We report a 9-year-old boy who presented at the age of three months with diabetic ketoacidosis. Results Sequencing of the KCNJ11 gene revealed an R201H mutation. Therefore, he was transferred from insulin to oral SU therapy. He required a high-threshold dose before insulin could be discontinued. After transition, a subsequent dose reduction was necessary to avoid hypoglycemia. Improved sustained metabolic control without complications was achieved on a low SU maintenance dose twice daily over 36 months.SU therapy is safe for patients with diabetes due to KCNJ11 mutations. The mechanism of a threshold dose and the twice-daily requirement needs further attention.

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    KW - Diabetes mellitus

    KW - Drug therapy

    KW - Kir6.2 channel

    KW - Sulfonylurea receptor

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    KW - KIR6.2 MUTATIONS

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    KW - GENE

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