Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Jul 15, 2019; 10(7): 414-420
Published online Jul 15, 2019. doi: 10.4239/wjd.v10.i7.414
HNF1A mutation in a Thai patient with maturity-onset diabetes of the young: A case report
Nattachet Plengvidhya, Watip Tangjittipokin, Nipaporn Teerawattanapong, Tassanee Narkdontri, Pa-thai Yenchitsomanus
Nattachet Plengvidhya, Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Nattachet Plengvidhya, Watip Tangjittipokin, Nipaporn Teerawattanapong, Tassanee Narkdontri, Pa-thai Yenchitsomanus, Siriraj Center of Research Excellence for Diabetes and Obesity, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Watip Tangjittipokin, Nipaporn Teerawattanapong, Tassanee Narkdontri, Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Nipaporn Teerawattanapong, Tassanee Narkdontri, Research Division, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Pa-thai Yenchitsomanus, Siriraj Center of Research Excellence for Molecular Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
Author contributions: All authors contributed to writing the manuscript and reviewing the manuscript.
Supported by Mahidol University Research Grant, Nos. R015810001 and 016120003 (to Nattachet Plengvidhya); Siriraj Research Grant for Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, No. R015934015 (to Tassanee Narkdontri and Watip Tangjittipokin); Thailand Research Fund grants, Nos. TRG5780113 (to Watip Tangjittipokin), BRG5280008 (to Nattachet Plengvidhya), and IRG5980006 (to Pa-thai Yenchitsomanus).
Informed consent statement: The patient involved in this study gave her written informed consent authorizing use and disclosure of her protected health information.
Conflict-of-interest statement: All the authors have no conflicts of interests to declare.
CARE Checklist (2016) statement: The guidelines of the “CARE Checklist - 2016” have been adopted.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Nattachet Plengvidhya, MD, Academic Research, Associate Professor, Senior Lecturer, Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok 10700, Thailand. sinpv.natpl@gmail.com
Telephone: +66-2-4167797 Fax: +66-2-4197792
Received: February 18, 2019
Peer-review started: February 20, 2019
First decision: May 8, 2019
Revised: May 24, 2019
Accepted: June 11, 2019
Article in press: June 11, 2019
Published online: July 15, 2019
Abstract
BACKGROUND

Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes. The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year. MODY 3 is caused by mutation of hepatocyte nuclear factor (HNF) 1A genes and is the most common MODY subtype. Diagnosis of MODY 3 is crucial since glycemic control can be accomplished by very low dose of sulfonylurea. In this report we described a Thai MODY 3 patient who had excellence plasma glucose control by treating with glicazide 20 mg per day and insulin therapy can be discontinued.

CASE SUMMARY

A 31-year-old woman was diagnosed diabetes mellitus at 14 years old. The disease was transmitted from her grandmother and mother compatible with autosomal dominant inheritance. Sanger sequencing of proband’s DNA identified mutation of HNF1A at codon 203 which changed amino acid from arginine to cysteine (R203C). This mutation was carried only by family members who have diabetes. The patient has been treated effectively with a combination of oral hypoglycemic agents and must include a very low dose of glicazide (20 mg/d). Insulin therapy was successfully discontinued.

CONCLUSION

We demonstrated a first case of pharmacogenetics in Thai MODY 3 patient. Our findings underscore the essential role of molecular genetics in diagnosis and guidance of appropriate treatment of diabetes mellitus in particular patient.

Keywords: Oral sulfonylureas, Maturity-onset diabetes of the young, HNF1A, Case report

Core tip: Maturity-onset diabetes of the young (MODY) is the most common form of diabetes in patients diagnosed under the age of 25. In addition, MODY is characterized by autosomal dominant inheritance. We report a R203C mutation in the HNF1A causing MODY type 3. The genetic diagnosis is implicated to alter SU treatment. This study revealed that excellent glycemic control in this patient could be achieved by very low dose SU. Furthermore, this is the first report of exceptional response to treatment with SU in Thai MODY3.