Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation

Susan Peña-Almazan

doi:10.1016/j.diabres.2014.12.010

Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation

Diabetes Res Clin Pract. 2015 Apr;108(1):e18-20. doi: 10.1016/j.diabres.2014.12.010. Epub 2015 Jan 30.

Author

Susan Peña-Almazan¹

Affiliation

¹ Boonshoft School of Medicine, Wright State University, United States; Pediatric Endocrinologist Dayton Children's Hospital, One Children's Plaza, Dayton, OH 45404, United States. Electronic address: almazans@childrensdayton.org.

PMID: 25678012
DOI: 10.1016/j.diabres.2014.12.010

Abstract

Mutations in KCNJ11 cause majority of cases of permanent neonatal diabetes (PND). Multiple reports of PND with successful transitioning to oral sulfonylurea had been reported except for those with DEND syndrome. This case report highlights a case of successful sulfonylurea treatment in a patient with DEND syndrome.

Keywords: DEND syndrome; KCNJ11 gene; Permanent neonatal diabetes; Sulfonylurea (glyburide) therapy.

Publication types

Case Reports

MeSH terms

DNA / genetics
DNA Mutational Analysis
Developmental Disabilities / drug therapy
Developmental Disabilities / genetics*
Developmental Disabilities / metabolism
Diabetes Mellitus / drug therapy
Diabetes Mellitus / genetics*
Diabetes Mellitus / metabolism
Genetic Testing
Humans
Infant, Newborn
Infant, Newborn, Diseases*
Male
Mutation*
Potassium Channels, Inwardly Rectifying / genetics*
Potassium Channels, Inwardly Rectifying / metabolism
Seizures / drug therapy
Seizures / genetics*
Seizures / metabolism
Sulfonylurea Compounds / therapeutic use*
Syndrome

Substances

Kir6.2 channel
Potassium Channels, Inwardly Rectifying
Sulfonylurea Compounds
DNA

Supplementary concepts

Diabetes Mellitus, Permanent Neonatal