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

Diabetology & Metabolic Syndrome
Renata Peixoto-BarbosaFernando M A Giuffrida

Abstract

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. 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 a...Continue Reading

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Oct 6, 2020·Frontiers in Endocrinology·Leweihua LinTuanyu Fang
Dec 10, 2020·Clinical Diabetes and Endocrinology·Ken Munene NkongeTeresa Njeri Nkonge
Mar 12, 2021·Frontiers in Endocrinology·Carmel Braverman-Gross, Nissim Benvenisty
Apr 4, 2021·Journal of Personalized Medicine·Mar Sempere-BigorraOmar Cauli
Apr 24, 2021·World Journal of Diabetes·Anastasios SerbisEkaterini Siomou
Jul 25, 2021·International Journal of Molecular Sciences·Dawid SkoczekNeli Kachamakova-Trojanowska

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