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Case Report
A homozygous SLC5A2 mutation: A natural protection against diabetes?
1 Medical Doctor, Department of Internal Medicine, Ikazia Hospital, Rotterdam, The Netherland
2 Internist, Department of Internal Medicine, Ikazia Hospital, Rotterdam, The Netherlands
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Gyan Ramsingh
The Netherlands,
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Article ID: 101061Z01GR2019
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Ramsingh G, Brugts M, Dees A. A homozygous SLC5A2 mutation: A natural protection against diabetes? Int J Case Rep Images 2019;10:101061Z01GR2019.ABSTRACT
Introduction: Familial renal glucosuria (FRG) is the result of a mutation in the SLC5A2 gene, which codes for the sodium/glucose cotransporter 2 (SGLT2). The main task of this transporter lies in the proximal tubular reabsorption of filtered glucose.
Case Report: In this case report, a healthy 35-year-old male of Moroccan descent was diagnosed with a homozygous SLC5A2 mutation after presentation with glucosuria without showing any other symptoms. The patient showed renal glucosuria while having normal serum glucose levels.
Conclusion: The present case highlights the possible importance in performing additional DNA analysis in patients with renal glucosuria without any other symptoms. This in turn will aid in deciding what intervention to apply for patient and possibly their relatives.
Keywords: Diabetes mellitus, Familial renal glucosuria, Mutations, Renal glucosuria, SGLT2, SLC5A2
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Acknowledgments
Our gratitude goes toward Dr. Ferrannini for giving us permission to use one of his illustrations.
Author ContributionsGyan Ramsingh - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Michael Brugts - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ad Dees - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2019 Gyan Ramsingh et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
