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Early Glibenclamide Treatment in a Clinical Newborn With KCNJ11 Gene Mutation

Gerhard Däublin, Bettina Lorenz‐Depiereux, Tim Matthias Strom, Oliver Blankenstein, Klemens Raile

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Abstract

Activating mutations in the KCNJ11 gene, which code for the ATP-sensitive K+ channel subunit Kir6.2, are the most common cause of permanent neonatal diabetes. Recently, a switch from insulin treatment to oral sulfonylurea has been proposed if genetic testing reveals sulfonylurea-sensitive KCNJ11 mutations (1). Until now, hurdles for early treatment were 1 ) the time until the mutation analysis is finished and 2 ) the lack of knowledge about adverse effects of glibenclamide in …

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Activating mutations in the KCNJ11 gene, which code for the ATP-sensitive K+ channel subunit Kir6.2, are the most common cause of permanent neonatal diabetes. Recently, a switch from insulin treatment to oral sulfonylurea has been proposed if genetic testing reveals sulfonylurea-sensitive KCNJ11 mutations (1). Until now, hurdles for early treatment were 1 ) the time until the mutation analysis is finished and 2 ) the lack of knowledge about adverse effects of glibenclamide in …

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Available abstract

Activating mutations in the KCNJ11 gene, which code for the ATP-sensitive K+ channel subunit Kir6.2, are the most common cause of permanent neonatal diabetes. Recently, a switch from insulin treatment to oral sulfonylurea has been proposed if genetic testing reveals sulfonylurea-sensitive KCNJ11 mutations (1). Until now, hurdles for early treatment were 1 ) the time until the mutation analysis is finished and 2 ) the lack of knowledge about adverse effects of glibenclamide in …

Key concepts: Glibenclamide, Sulfonylurea, Medicine, Sulfonylurea receptor, Kir6.2, Mutation, Diabetes mellitus, Gene

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