Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant

Neonatal diabetes mellitus (NDM) is a rare condition that can be either transient or permanent. KATP channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM. Cases caused by Kir6.2 mutation usually result in permanent NDM (PNDM)...

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Veröffentlicht in:	Journal of Pediatric Endocrinology and Metabolism 2011-12, Vol.24 (11-12), p.1077-1080
Hauptverfasser:	Şıklar, Zeynep, Ellard, Sian, Okulu, Emel, Berberoğlu, Merih, Young, Elizabeth, Savaş Erdeve, Şenay, Akın Mungan, İlke, Hacıhamdioğlu, Bülent, Erdeve, Ömer, Arsan, Saadet, Öçal, Gönül
Format:	Artikel
Sprache:	eng
Schlagworte:	Diabetes Mellitus - drug therapy Diabetes Mellitus - genetics Glyburide - therapeutic use Humans Hypoglycemic Agents - therapeutic use Infant Infant, Newborn Infant, Newborn, Diseases - drug therapy Infant, Newborn, Diseases - genetics Infant, Premature Insulin Glargine Insulin, Long-Acting - therapeutic use Male neonatal diabetes Point Mutation - genetics Potassium Channels, Inwardly Rectifying - genetics Remission Induction sulfonylurea therapy
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