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Approach to the Patient with MODY-Monogenic Diabetes.

Authors
  • Broome, David T1
  • Pantalone, Kevin M1
  • Kashyap, Sangeeta R1
  • Philipson, Louis H2
  • 1 Department of Endocrinology, Diabetes & Metabolism, Cleveland Clinic Foundation, Cleveland, Ohio.
  • 2 Kovler Diabetes Center, Departments of Medicine and Pediatrics, University of Chicago, Chicago, Illinois.
Type
Published Article
Journal
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Publication Date
Jan 01, 2021
Volume
106
Issue
1
Pages
237–250
Identifiers
DOI: 10.1210/clinem/dgaa710
PMID: 33034350
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Maturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare collection of inherited disorders of non-autoimmune diabetes mellitus that remains insufficiently diagnosed despite increasing awareness. These cases are important to efficiently and accurately diagnose, given the clinical implications of syndromic features, cost-effective treatment regimen, and the potential impact on multiple family members. Proper recognition of the clinical manifestations, family history, and cost-effective lab and genetic testing provide the diagnosis. All patients must undergo a thorough history, physical examination, multigenerational family history, lab evaluation (glycated hemoglobin A1c [HbA1c], glutamic acid decarboxylase antibodies [GADA], islet antigen 2 antibodies [IA-2A], and zinc transporter 8 [ZnT8] antibodies). The presence of clinical features with 3 (or more) negative antibodies may be indicative of MODY-monogenic diabetes, and is followed by genetic testing. Molecular genetic testing should be performed before attempting specific treatments in most cases. Additional testing that is helpful in determining the risk of MODY-monogenic diabetes is the MODY clinical risk calculator (>25% post-test probability in patients not treated with insulin within 6 months of diagnosis should trigger genetic testing) and 2-hour postprandial (after largest meal of day) urinary C-peptide to creatinine ratio (with a ≥0.2 nmol/mmol to distinguish HNF1A- or 4A-MODY from type 1 diabetes). Treatment, as well as monitoring for microvascular and macrovascular complications, is determined by the specific variant that is identified. In addition to the diagnostic approach, this article will highlight recent therapeutic advancements when patients no longer respond to first-line therapy (historically sulfonylurea treatment in many variants). Upon completion of this educational activity, participants should be able to. This continuing medical education activity should be of substantial interest to endocrinologists and all health care professionals who care for people with diabetes mellitus. © The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: [email protected]

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