Maturity-onset diabetes of the young: From a molecular basis perspective toward the clinical phenotype and proper management
Por:
Oliveira, SC, Neves, JS, Perez, A, Carvalho, D
Publicada:
1 feb 2020
Resumen:
Maturity-onset diabetes of the young (MODY) comprises a heterogeneous group of monogenic disorders characterized by primary defect in pancreatic beta-cell function, early onset and autosomal dominant inheritance, accounting for about 1-5% of all diabetes diagnoses. Mutations in 14 genes are responsible for the majority of all MODY cases described so far. The clinical phenotype relies on genetic defects, with important implications in the optimal treatment and prognosis definition. MODY's early diagnosis remains a challenge, since this group of inherited disorders comprises a large clinical spectrum and it usually overlaps with other types of diabetes, requiring a high index of suspicion even if the definitive statement demands a molecular genetic study.
Recent advances on the genetic determinants and pathophysiology of MODY have allowed a better understanding of its underlying molecular mechanisms, providing a proper genetic counseling and early diagnosis. These new management insights will make possible to set up new therapeutic strategies, with drugs able to prevent, correct or at least delay the decline of pancreatic beta-cell function, thus affording for a more personalized treatment and, ultimately, for a better patient care. (C) 2019 SEEN y SED. Published by Elsevier Espana, S.L.U. All rights reserved.
Filiaciones:
Oliveira, SC:
Ctr Hosp Univ Sao Joao, Dept Endocrinol Diabet & Metab, Porto, Portugal
Univ Porto, Fac Med, Porto, Portugal
Univ Porto, Inst Invest & Inovacao Saude, Porto, Portugal
Neves, JS:
Ctr Hosp Univ Sao Joao, Dept Endocrinol Diabet & Metab, Porto, Portugal
Univ Porto, Fac Med, Porto, Portugal
Univ Porto, Inst Invest & Inovacao Saude, Porto, Portugal
Perez, A:
Hosp Santa Creu & Sant Pau, Dept Endocrinol & Nutr, Barcelona, Spain
Univ Autonoma Barcelona, Dept Med, Bellaterra, Spain
CIBER Diabet & Enfermidades Metabol Asociadas CIB, Madrid, Spain
Carvalho, D:
Ctr Hosp Univ Sao Joao, Dept Endocrinol Diabet & Metab, Porto, Portugal
Univ Porto, Fac Med, Porto, Portugal
Univ Porto, Inst Invest & Inovacao Saude, Porto, Portugal
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