2002
DOI: 10.1590/s0004-27302002000200012
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Diabetes Mellitus do Tipo MODY

Abstract: Estima-se que perto de 5% dos indivíduos classificados como portadores de diabetes mellitus (DM) tipo 2 e 10% daqueles considerados como tipo 1 (anteriormente classificado como juvenil) sejam, na verdade, portadores de mutações MODY. Nesta forma de DM ocorre uma co-segregação evidente de algumas mutações com a hiperglicemia, fato este reproduzido em inúmeras famílias estudadas em várias populações do mundo. Caracteriza-se por ser uma das poucas causas de DM cujo modo de transmissão da predisposição genética oc… Show more

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Cited by 8 publications
(9 citation statements)
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“…These mutations are characterized by high level of penetrance thus 95% of individuals that have MODY will become diabetic or will have an altered glucose metabolism before the age of 55 [25]. Misdiagnosis of MODY is a widespread problem and about 5% of patients with T2DM and about 10% type 1 diabetes melitus (T1DM) actually may have MODY [25].…”
Section: Mody Features and Diagnosismentioning
confidence: 99%
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“…These mutations are characterized by high level of penetrance thus 95% of individuals that have MODY will become diabetic or will have an altered glucose metabolism before the age of 55 [25]. Misdiagnosis of MODY is a widespread problem and about 5% of patients with T2DM and about 10% type 1 diabetes melitus (T1DM) actually may have MODY [25].…”
Section: Mody Features and Diagnosismentioning
confidence: 99%
“…Misdiagnosis of MODY is a widespread problem and about 5% of patients with T2DM and about 10% type 1 diabetes melitus (T1DM) actually may have MODY [25]. For instance in one study 20 of 247 patients clinically labeled as T1DM actually had hepatocyte nuclear factor 1a (HNF-1a) or HNF-4a mutations.…”
Section: Mody Features and Diagnosismentioning
confidence: 99%
“…A number of cases of monogenic diabetes are erroneously classified as type 1 or type 2 diabetes (4,5). It is estimated that close to 5% of the individuals classified as having type 2 DM, and about 10% of those considered type 1 DM, are actual carriers of a MODY mutation (6).…”
Section: Introductionmentioning
confidence: 99%
“…It is characterized by autosomal dominant mode of inheritance, early onset of hyperglycemia (usually before 25 years old) (2,8), defects of insulin secretion (3), and generally lack of beta-cell specific antibodies (2,8). Mutations occurring in MODY genes lead to a profound phenotypic impact (high penetrance), and 95% of the individual carriers of a MODY mutation will be diabetic or will have altered glycemic metabolism before the age of 55 (6). To date, there are eleven types of MODY described, distinguished by genetic, metabolic, and clinical heterogeneity.…”
Section: Introductionmentioning
confidence: 99%
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