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

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art_GIUFFRIDA_Maturityonset_diabetes_of_the_young_MODY_in_Brazil_2017.PDF (499.38 KB)
Citações na Scopus
17
Tipo de produção
article
Data de publicação
2017
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER IRELAND LTD
Autores
GIUFFRIDA, Fernando M. A.
MOISES, Regina S.
WEINERT, Leticia S.
CALLIARI, Luis E.
DOTTO, Renata P.
FRANCO, Luciana F.
LIMA, Renata Andrade
Citação
DIABETES RESEARCH AND CLINICAL PRACTICE, v.123, p.134-142, 2017
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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 This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.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 One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals.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.
Palavras-chave
MODY, Diabetes mellitus, HNF1A, Glucokinase, Monogenic diabetes
URI
https://observatorio.fm.usp.br/handle/OPI/19049
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Coleções
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/25
Artigos e Materiais de Revistas Científicas - LIM/36
Artigos e Materiais de Revistas Científicas - ODS/03