NDLI: Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Mohamadi, Ali Clark, Loretta M. Lipkin, Paul H. Mahone, E. Mark Wodka, Ericka L. Plotnick, Leslie P.
Description	Country affiliation: United States Author Affiliation: Mohamadi A ( Division of Pediatric Endocrinology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA. amohama1@jhmi.edu)
Abstract	Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. Patients with this mutation have been successfully transitioned from insulin to sulfonylurea (SU) therapy without compromise in their glycemic control. Among patients with neonatal diabetes due to KCNJ11 mutations, approximately 25% have neurological findings including developmental delay, motor dysfunction, and epilepsy, known as DEND syndrome. There have been rare cases of juvenile patients with intermediate DEND syndrome (iDEND) reporting variable improvement in neurological function following transition from insulin to SU treatment. We describe the response to glyburide in a 15-yr-old boy with severe global developmental delays resulting from the KCNJ11 mutation V59M. The patient was discovered to have diabetes mellitus at 11.5 months of age, making this the oldest age at diagnosis of a KCNJ11 mutation-related case of neonatal diabetes. Because consensus has been to screen patients for this mutation only if younger than 6 months at the time of diagnosis, we suggest that all patients under the age of 12 months at diagnosis should receive genetic testing for monogenic causes of diabetes.
File Format	HTM / HTML
ISSN	1399543X
Issue Number	3
Volume Number	11
e-ISSN	13995448
Journal	Pediatric Diabetes
Language	English
Publisher	Wiley
Publisher Date	2010-05-01
Publisher Place	Denmark
Access Restriction	Subscribed
Subject Keyword	Discipline Endocrinology Discipline Pediatrics Developmental Disabilities Drug Therapy Diabetes Mellitus, Type 1 Congenital Epilepsy Glyburide Administration & Dosage Insulin Potassium Channels, Inwardly Rectifying Genetics Administration, Oral Adolescent Continuity Of Patient Care Complications Humans Hypoglycemic Agents Infant, Newborn Infusions, Subcutaneous Male Syndrome Withholding Treatment Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Endocrinology, Diabetes and Metabolism Internal Medicine Pediatrics, Perinatology and Child Health

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