Early Glibenclamide Treatment in a Clinical Newborn With KCNJ11 Gene Mutation
Gerhard Däublin, Bettina Lorenz‐Depiereux, Tim Matthias Strom, Oliver Blankenstein, Klemens Raile
Abstract
Gerhard Däublin, Bettina Lorenz‐Depiereux, Tim Matthias Strom, Oliver Blankenstein, Klemens Raile
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 …
Key concepts: Glibenclamide, Sulfonylurea, Medicine, Sulfonylurea receptor, Kir6.2, Mutation, Diabetes mellitus, Gene