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https://observatorio.fm.usp.br/handle/OPI/19049
Title: | Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data |
Authors: | GIUFFRIDA, Fernando M. A.; MOISES, Regina S.; WEINERT, Leticia S.; CALLIARI, Luis E.; MANNA, Thais Della; DOTTO, Renata P.; FRANCO, Luciana F.; CAETANO, Lilian A.; TELES, Milena G.; LIMA, Renata Andrade; ALVES, Cresio; DIB, Sergio A.; SILVEIRO, Sandra P.; DIAS-DA-SILVA, Magnus R.; REIS, Andre F. |
Citation: | DIABETES RESEARCH AND CLINICAL PRACTICE, v.123, p.134-142, 2017 |
Abstract: | 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 This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.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 One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals.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/m(2); 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. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - LIM/25 Artigos e Materiais de Revistas Científicas - LIM/36 Artigos e Materiais de Revistas Científicas - ODS/03 |
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