2012
DOI: 10.1590/s0004-27302012000800010
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Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects

Abstract: SUMMARYMaturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, precise diagnosis of MODY is important for determining management and prognosis. We report two heterozygous GCK mutations identified duri… Show more

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Cited by 8 publications
(13 citation statements)
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References 29 publications
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“…These data allow us to estimate the number of MODY cases in Brazil as approximately 140 000 to 280 000. However, until 2016, around 200 subjects of about 50 Brazilian families diagnosed with the 2 most common subtypes of MODY ( GCK and HNF1A ) have been described . Hence, MODY cases are clearly underestimated in Brazil.…”
Section: Introductionmentioning
confidence: 99%
See 1 more Smart Citation
“…These data allow us to estimate the number of MODY cases in Brazil as approximately 140 000 to 280 000. However, until 2016, around 200 subjects of about 50 Brazilian families diagnosed with the 2 most common subtypes of MODY ( GCK and HNF1A ) have been described . Hence, MODY cases are clearly underestimated in Brazil.…”
Section: Introductionmentioning
confidence: 99%
“…However, until 2016, around 200 subjects of about 50 Brazilian families diagnosed with the 2 most common subtypes of MODY (GCK and HNF1A) have been described. [5][6][7][8][9][10][11][12][13][14][15][16][17][18] Hence, MODY cases are clearly underestimated in Brazil. Besides that, there is a great racial diversity in Brazilian people, contributing to a wide genetic background, an important difference from countries with more homogeneous population.…”
mentioning
confidence: 99%
“…Maturity Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes, resulting from β pancreatic cell and insulin secretion dysfunction [2-4]. MODY includes a clinically and genetically heterogeneous group of diabetes subtypes characterized by an autosomal dominant pattern of inheritance [2,3] with early onset of hyperglycemia in individuals, typically younger than 25 years of age [2,5,6]. MODY accounts for 2%–5% of all cases of diabetes [7].…”
Section: Introductionmentioning
confidence: 99%
“…The first gene causally implicated was the glucokinase gene ( GCK ) [8]. Currently, 14 genes are associated with MODY: HNF4A , GCK , HNF1A , PDX1 , HNF1B , NEUROD1 , KLF11 , PAX4 , CEL , INS , and BLK , corresponding respectively to MODY types 1 to 11, with 3 more recently discovered new genes: ABCC8 , KCNJ11 , and APPL1 [6,9-11]. Depending on the genetic etiology, the different subtypes present with different clinical presentations [4].…”
Section: Introductionmentioning
confidence: 99%
“…GCK mutations are more commonly diagnosed in countries where glucose screening in asymptomatic people is a routine procedure (such as Germany, France, Spain and Italy), whereas HNF1A-MODY is more commonly diagnosed were routine glucose screening is seldom done (12,13). There also some reported MODY cases in Brazilian literature (14)(15)(16)(17)(18).…”
mentioning
confidence: 99%