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Diabetology & Metabolic Syndrome
Published in: Diabetology & Metabolic Syndrome 1/2020

01-12-2020 | Sulfonylurea | Review

Update on clinical screening of maturity-onset diabetes of the young (MODY)

Authors: Renata Peixoto-Barbosa, André F. Reis, Fernando M. A. Giuffrida

Published in: Diabetology & Metabolic Syndrome | Issue 1/2020

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Abstract

Background

Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes, being characterized by beta-cell disfunction, early onset, and autosomal dominant inheritance. Despite the rapid evolution of molecular diagnosis methods, many MODY cases are misdiagnosed as type 1 or type 2 diabetes. High costs of genetic testing and limited knowledge of MODY as a relevant clinical entity are some of the obstacles that hinder correct MODY diagnosis and treatment. We present a broad review of clinical syndromes related to most common MODY subtypes, emphasizing the role of biomarkers that can help improving the accuracy of clinical selection of candidates for molecular diagnosis.

Main body

To date, MODY-related mutations have been reported in at least 14 different genes. Mutations in glucokinase (GCK), hepatocyte nuclear factor-1 homeobox A (HNF1A), and hepatocyte nuclear factor-4 homeobox A (HNF4A) are the most common causes of MODY. Accurate etiological diagnosis can be challenging. Many biomarkers such as apolipoprotein-M (ApoM), aminoaciduria, complement components, and glycosuria have been tested, but have not translated into helpful diagnostic tools. High-sensitivity C-reactive protein (hs-CRP) levels are lower in HNF1A-MODY and have been tested in some studies to discriminate HNF1A-MODY from other types of diabetes, although more data are needed. Overall, presence of pancreatic residual function and absence of islet autoimmunity seem the most promising clinical instruments to select patients for further investigation.

Conclusions

The selection of diabetic patients for genetic testing is an ongoing challenge. Metabolic profiling, diabetes onset age, pancreatic antibodies, and C-peptide seem to be useful tools to better select patients for genetic testing. Further studies are needed to define cut-off values in different populations.
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Metadata
Title
Update on clinical screening of maturity-onset diabetes of the young (MODY)
Authors
Renata Peixoto-Barbosa
André F. Reis
Fernando M. A. Giuffrida
Publication date
01-12-2020
Publisher
BioMed Central
Published in
Diabetology & Metabolic Syndrome / Issue 1/2020
Electronic ISSN: 1758-5996
DOI
https://doi.org/10.1186/s13098-020-00557-9

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