DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.

Abstract

Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (NDM), and successful glycemic control has been obtained in several cases with oral sulfonylureas (SU). We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. Thus, our case reinforces that most cases with DEND syndrome are insensitive to SU.

• Authors: Sachie Itoh, Hisafumi Matsuoka, Yuki Yasuda, Nobuka Miyake, Keiko Suzuki, Tohru Yorifuji, Shigetaka Sugihara
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 26 Issue 1-2 Pg. 143-6 ( 2013) ISSN: 0334-018X [Print] Germany
• PMID: 23382304 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hypoglycemic Agents
• Kir6.2 channel
• Potassium Channels, Inwardly Rectifying
• Sulfonylurea Compounds
• Valine
• Alanine

Topics

• Alanine (genetics)
• Amino Acid Substitution (genetics, physiology)
• Diabetes Mellitus (congenital, drug therapy, genetics)
• Epilepsies, Myoclonic (complications, drug therapy, genetics)
• Female
• Humans
• Hypoglycemic Agents (therapeutic use)
• Infant
• Mutation, Missense (physiology)
• Potassium Channels, Inwardly Rectifying (genetics)
• Sulfonylurea Compounds (therapeutic use)
• Syndrome
• Treatment Failure
• Valine (genetics)