Bhattacharya S, Pappachan JM. Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma. World J Diabetes 2024; 15(6): 1051-1059 [PMID: 38983823 DOI: 10.4239/wjd.v15.i6.1051]
Corresponding Author of This Article
Joseph M Pappachan, MD, FRCP, Academic Editor, Professor, Department of Endocrinology and Metabolism, Lancashire Teaching Hospitals NHS Trust, Sharoe Green Lane, Preston PR2 9HT, United Kingdom. drpappachan@yahoo.co.in
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Editorial
Open-Access Policy of This Article
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/
World J Diabetes. Jun 15, 2024; 15(6): 1051-1059 Published online Jun 15, 2024. doi: 10.4239/wjd.v15.i6.1051
Monogenic diabetes in children: An underdiagnosed and poorly managed clinical dilemma
Saptarshi Bhattacharya, Joseph M Pappachan
Saptarshi Bhattacharya, Department of Endocrinology, Indraprastha Apollo Hospitals, Delhi 110076, India
Joseph M Pappachan, Department of Endocrinology and Metabolism, Lancashire Teaching Hospitals NHS Trust, Preston PR2 9HT, United Kingdom
Joseph M Pappachan, Faculty of Science, Manchester Metropolitan University, Manchester M15 6BH, United Kingdom
Joseph M Pappachan, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PL, United Kingdom
Author contributions: Bhattacharya S wrote the initial draft of the manuscript with some help from Pappachan JM by performing literature search, interpretation of relevant scientific data, and compiling the best evidence; He also contributed to the critical revision, important intellectual content and figure preparation for the paper; Pappachan JM contributed to the conceptual design of the paper and provided additional input to the drafting, literature review, revision and modifications of the paper; All authors have read and approved the final version of the manuscript.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Joseph M Pappachan, MD, FRCP, Academic Editor, Professor, Department of Endocrinology and Metabolism, Lancashire Teaching Hospitals NHS Trust, Sharoe Green Lane, Preston PR2 9HT, United Kingdom. drpappachan@yahoo.co.in
Received: December 2, 2023 Revised: March 6, 2024 Accepted: April 22, 2024 Published online: June 15, 2024 Processing time: 191 Days and 18.3 Hours
Abstract
Monogenic diabetes, constituting 1%-2% of global diabetes cases, arises from single gene defects with distinctive inheritance patterns. Despite over 50 ass-ociated genetic disorders, accurate diagnoses and management of monogenic diabetes remain inadequate, underscoring insufficient clinician awareness. The disease spectrum encompasses maturity-onset diabetes of the young (MODY), characterized by distinct genetic mutations affecting insulin secretion, and neonatal diabetes mellitus (NDM) – a heterogeneous group of severe hyperglycemic disorders in infants. Mitochondrial diabetes, autoimmune monogenic diabetes, genetic insulin resistance and lipodystrophy syndromes further diversify the monogenic diabetes landscape. A tailored approach based on phenotypic and biochemical factors to identify candidates for genetic screening is recommended for suspected cases of MODY. NDM diagnosis warrants immediate molecular genetic testing for infants under six months. Identifying these genetic defects presents a unique opportunity for precision medicine. Ongoing research aimed to develop cost-effective genetic testing methods and gene-based therapy can facilitate appropriate identification and optimize clinical outcomes. Identification and study of new genes offer a valuable opportunity to gain deeper insights into pancreatic cell biology and the pathogenic mechanisms underlying common forms of diabetes. The clinical review published in the recent issue of World Journal of Diabetes is such an attempt to fill-in our knowledge gap about this enigmatic disease.
Core Tip: Monogenic diabetes forms a spectrum of single gene disorders, characterized by distinct patterns of inheritance, accounting for about 1%–2% of diabetes mellitus burden in the world. Although more than 50 unique genetic mutations associated with these disorders have been identified to date, the diagnosis and management of monogenic diabetes are still inadequate globally because of the poor awareness and professional inertia among physicians. Prompt suspicion and diagnostic evaluation of these disorders are of paramount importance from the management and genetic counselling perspectives. A clinical update review in the World Journal of Diabetes empowers physicians to have a better understanding about this disease.
