Startseite Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
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Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation

  • Melek Yildiz EMAIL logo , Teoman Akcay , Banu Aydin , Abdurrahman Akgun , Beyza Belde Dogan , Elisa De Franco , Sian Ellard und Hasan Onal
Veröffentlicht/Copyright: 6. Januar 2018

Abstract

Background:

As KATP channel mutations are the most common cause of neonatal diabetes mellitus (NDM) and patients with these mutations can be treated with oral sulfonylureas, empiric therapy is a common practice for NDM patients.

Case presentation:

A non-syndromic, small for gestational age baby born to first-degree consanguineous parents was diagnosed with NDM. Because of hypo- and hyperglycemic episodes and variability in insulin requirement, we initiated a trial of glibenclamide, with a presumptive diagnosis of NDM caused by a KATP channel mutation. However, this empiric sulfonylurea trial did not improve the patient’s glycemic control and resulted in resistance to exogenous insulin. Genetic testing identified a previously reported homozygous INS promoter mutation (c.-331C>G), which was not responsive to sulfonylurea therapy.

Conclusions:

In light of our results, we recommend to confirm the genetic diagnosis as soon as possible and decide on sulfonylurea treatment after a genetic diagnosis is confirmed.


Corresponding author: Melek Yildiz, MD, Istanbul Saglık Bilimleri Universitesi Kanuni Sultan Suleyman Egitim ve Arastırma Hastanesi, Cocuk Endokrinoloji Bolumu, 34303, Küçükçekmece, Istanbul, Turkey, Phone: +90 505 746 5176, Fax: +90 212 571 4790

Acknowledgments

Genetic testing for neonatal diabetes was provided by the University of Exeter Medical School Genetics Laboratory with funding from the Wellcome Trust to Professors Andrew Hattersley and Sian Ellard.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2017-8-24
Accepted: 2017-11-16
Published Online: 2018-1-6
Published in Print: 2018-3-28

©2018 Walter de Gruyter GmbH, Berlin/Boston

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