Early Glibenclamide Treatment in a Clinical Newborn With KCNJ11 Gene Mutation
- Gerhard Däublin, MD1,
- Bettina Lorenz-Depiereux, PHD23,
- Tim M. Strom, MD23,
- Oliver Blankenstein, MD4 and
- Klemens Raile, MD4
- 1Children's Hospital Aurich, Aurich, Germany
- 2GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany
- 3Institute of Human Genetics, Technical University, Munich, Germany
- 4Department of Pediatric Endocrinology and Diabetes, Charité Campus Virchow, Berlin, Germany
- Address correspondence to Klemens Raile, MD, Department of Pediatric Endocrinology and Diabetes, Charité Children's Hospital, Augustenburger Platz 1, 13353 Berlin, Germany. E-mail: klemens.raile{at}charite.de
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 …
