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Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data

2016; Elsevier BV; Volume: 123; Linguagem: Inglês

10.1016/j.diabres.2016.10.017

1872-8227

Fernando M. A. Giuffrida, Regina S. Moisés, Letícia Schwerz Weinert, Luís Eduardo Calliari, Thaís Della Manna, Renata P. Dotto, Luciana F. Franco, Lílian Araújo Caetano, Milena Gurgel Teles, Renata Andrade Lima, Crésio Alves, Sérgio Atala Dib, Sandra Pinho Silveiro, Magnus R. Dias‐da‐Silva, André F. Reis,

Metabolism, Diabetes, and Cancer

Aims Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. Results 72 individuals had GCK mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals. Comparisons of GCK probands vs HNF1A: age 16 ± 11 vs 35 ± 20 years; age at diagnosis 11 ± 8 vs 21 ± 7 years; BMI 19 ± 6 vs 25 ± 6 kg/m2; sulfonylurea users 5 vs 83%; insulin users 5 vs 17%; presence of arterial hypertension 0 vs. 33%, all p < 0.05. No differences were observed in lipids and C-peptide. Conclusions Most MODY cases in Brazil are due to GCK mutations. In agreement with other studied populations, novel mutations are common. Only 14% of patients with familial diabetes carry a HNF1A mutation. Diagnosis of other rare forms of MODY is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis.