Sulfonylurea treatment in an infant with transient neonatal diabetes mellitus caused by an adenosine triphosphate binding cassette subfamily C member 8 gene mutation

• Yamazaki Masayo

  Department of Pediatrics, Jichi Medical University, Tochigi, Japan

• Sugie Hideo

  Faculty of Health and Medical Sciences, Tokoha University, Shizuoka, Japan

• Oguma Makiko

  Department of Pediatrics, Jichi Medical University, Tochigi, Japan Department of Pediatrics, Japan Community Health care Organization Utsunomiya Hospital, Tochigi, Japan

• Yorifuji Tohru

  Department of Pediatric Endocrinology and Metabolism, Children’s Medical Center, Osaka City General Hospital, Osaka, Japan

• Tajima Toshihiro

  Department of Pediatrics, Jichi Medical University, Tochigi, Japan

• Yamagata Takanori

  Department of Pediatrics, Jichi Medical University, Tochigi, Japan

Abstract

Neonatal diabetes mellitus (NDM) is an insulin-requiring monogenic form of diabetes that generally presents before six months of age. The following two types of NDM are known: transient NDM (TNDM) and permanent NDM (PNDM). Here we report on an infant with TNDM caused by a mutation (p.Gly832Cys) of the gene for the ATP binding cassette subfamily C member 8 (ABCC8). The patient exhibited hyperglycemia (600 mg/dL) at five weeks of age and insulin treatment was initiated. As genetic analysis identified a missense mutation within ABCC8, the insulin was replaced by glibenclamide at five months of age. Thereafter, the insulin was successfully withdrawn and his glycemic condition was well controlled at a dose of 0.0375 mg/kg/d. Since the patient’s blood glucose was under control and serum C-peptide levels were measurable, glibenclamide was stopped at 1 yr, 10 mo of age. The lack of DM relapsed to date confirms the TNDM diagnosis. In conclusion, when insulin is replaced with a sulfonylurea-class medication (SU) in NDM patients, serum C-peptide levels should be closely monitored and fine adjustment of SU dose is recommended.

Journal

• Clinical Pediatric Endocrinology

  Clinical Pediatric Endocrinology 26 (3), 165-169, 2017

  The Japanese Society for Pediatric Endocrinology

Keywords

• transient neonatal diabetes mellitus (TNDM)
• <i>ABCC8</i>
• sulfonylurea

Details

• CRID: 1390282679461767552
• NII Article ID: 130005865540
• DOI: 10.1297/cpe.26.165
• ISSN: 13477358
• ISSN: 09185739
• Web Site: https://www.jstage.jst.go.jp/article/cpe/26/3/26_2016-0034/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2018127801
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed