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Licensed Unlicensed Requires Authentication Published by De Gruyter November 1, 2011

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

  • Zeynep Şıklar EMAIL logo , Sian Ellard , Emel Okulu , Merih Berberoğlu , Elizabeth Young , Şenay Savaş Erdeve , İlke Akın Mungan , Bülent Hacıhamdioğlu , Ömer Erdeve , Saadet Arsan and Gönül Öçal
From the journal Journal of Pediatric Endocrinology and Metabolism
https://doi.org/10.1515/JPEM.2011.250

Abstract

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) rather than transient NDM (TNDM). The majority of patients with the Kir6.2 or SUR1 mutation can be successfully managed with a sulfonylurea agent, without the need for insulin. We report a preterm male with NDM having two novel missense mutations, E322A and D352H, in the KCNJ11 gene. At 2 months of age, successful transition from insulin to glibenclamide (glyburide) therapy of the patient was managed. At 5 months of age, his diabetes went in to remission.

Keywords: neonatal diabetes; sulfonylurea; therapy
Corresponding author: Dr. Zeynep Şıklar, Professor, Pediatric Endocrinology, Çigdem Mah. 1577. Sokak no: 2/1 Çankaya-Ankara 6130, Türkiye Phone: +90312 5956791, Fax: +90312 3191440
Received: 2011-4-17
Accepted: 2011-8-19
Published Online: 2011-11-01
Published in Print: 2011-12-01

©2011 by Walter de Gruyter Berlin Boston

From the journal
Journal of Pediatric Endocrinology and Metabolism
Journal of Pediatric Endocrinology and Metabolism
Volume 24 Issue 11-12
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