More than kin, less than kind: one family and the many faces of diabetes in youth

Franco, Luciana Ferreira; Peixoto-Barbosa, Renata; Dotto, Renata Pires; Vieira, José Gilberto H.; Silva, Magnus R. Dias da; Reis, L. C.; Giuffrida, Fernando de Mello Almada; Reis, André

doi:10.1590/2359-3997000000312

Cited by 1 publication

(1 citation statement)

References 19 publications

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“…Despite the rapid evolution of molecular diagnosis methods, many MODY cases may be misdiagnosed as type 1 or type 2 diabetes [9]. Accurate etiological diagnosis of diabetes can be challenging, even within a single family [10]. In this context, there is a worldwide trend towards "Precision Medicine" (PM), an approach which aims to tailor prevention and treatment taking characteristics of individuals and/or subpopulations into account.…”

Section: Introductionmentioning

confidence: 99%

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

Peixoto-Barbosa

Reis

Giuffrida

2020

Diabetol Metab Syndr

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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 cutoff values in different populations.

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Section: Introductionmentioning

confidence: 99%