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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• 作者：Fernando M.A. Giuffrida^a ; ^b ; ^{fernando.giuffrida@me.com} ; Regina S. Moises^b ; Leticia S. Weinert^c ; Luis E. Calliari^d ; Thais Della Manna^e ; Renata P. Dotto^b ; Luciana F. Franco^b ; Lilian A. Caetano^f ; Milena G. Teles^f ; Renata Andrade Lima^g ; Cré ; sio Alves^g ; Sergio A. Dib^b ; Sandra P. Silveiro^c ; Magnus R. Dias-da-Silva^b ; Andre F. Reis^b ; ^{afreis2005@gmail.com} ; on behalf of the Brazilian Monogenic Diabetes Study Group (BRASMOD)¹
• 关键词：MODY ; Diabetes mellitus ; HNF1A ; Glucokinase ; Monogenic diabetes
• 刊名：Diabetes Research and Clinical Practice
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：123
• 期：Complete
• 页码：134-142
• 全文大小：499 K
• 卷排序：123

文摘

A national registry of MODY cases in Brazil was established. 311 individuals were assessed, 72 with GCK mutations and 31 with HNF1A mutations. One new GCK mutation, Gly178Ala, has been described. GCK mutations are common in Brazilian individuals with non-progressive mild familial hyperglycemia. Only 14% of patients with early-onset familial diabetes carry a HNF1A mutations.