Diabetes Mellitus do Tipo MODY

Oliveira, Carolina Soares Viana de; Furuzawa, Gilberto K.; Reis, André

doi:10.1590/s0004-27302002000200012

Cited by 9 publications

(10 citation statements)

References 41 publications

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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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Maturity onset diabetes of the young: Diagnosis and treatment options

Covanţev¹,

Chiriac²,

Perciuleac³

et al. 2016

Russ. Open Med. J.

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Diabetes is a complicated disease, so multiple factors are involved in its development. Nevertheless some of the patients with type 1 and 2 diabetes mellitus have a monogenic form of this disease which has different treatment options and usually fewer complications. It is estimated that about 5% of patients with type 2 diabetes melitus (T2DM) and about 10% of type 1 diabetes melitus (T1DM) are misdiagnosed and have maturity onset diabetes of the young (MODY). We present a review study of the management of most frequent monogenic forms of diabetes such as MODY 1, 2 and 3 and the possibilities of their diagnosis including in resource limited situations.

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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%

Maturity onset diabetes of the young: Diagnosis and treatment options

Covanţev¹,

Chiriac²,

Perciuleac³

et al. 2016

Russ. Open Med. J.

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“…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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Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects

Caetano

Jorge

Malaquias

et al. 2012

Arq Bras Endocrinol Metab

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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 during the investigation of short stature. Case 1: a prepubertal 14-year-old boy was evaluated for constitutional delay of growth and puberty. During follow-up, he showed abnormal fasting glucose (113 mg/dL), increased level of HbA1c (6.6%), and negative β-cell antibodies. His father and two siblings also had slightly elevated blood glucose levels. The mother had normal glycemia. A GCK heterozygous missense mutation, p.Arg191Trp, was identified in the proband. Eighteen family members were screened for this mutation, and 11 had the mutation in heterozygous state. Case 2: a 4-year-old boy investigated for short stature revealed no other laboratorial alterations than elevated glycemia (118 mg/dL); β-cell antibodies were negative. His father, a paternal aunt, and the paternal grandmother also had slightly elevated glycemia, whereas his mother had normal glycemia. A GCK heterozygous missense mutation, p.Glu221Lys, was identified in the index patient and in four family members. All affected patients had mild elevated glycemia. Individuals with normal glycemia did not harbor mutations. GCK mutation screening should be considered in patients with chronic mild early-onset hyperglycemia, family history of impaired glycemia, and negative β-cell antibodies. Arq Bras Endocrinol Metab. 2012;56(8):519-24 SUMÁRIO O diabetes do tipo MODY (maturity-onset diabetes of the young) caracteriza-se por herança autossômica dominante, início precoce da hiperglicemia e defeitos na secreção de insulina. Os subtipos de MODY apresentam diferenças genéticas, metabólicas e clínicas. O MODY 2 é caracterizado por hiperglicemia leve assintomática e raramente requer tratamento farmacológico. O diagnóstico preciso de MODY é importante para se determinar o tratamento e o prognóstico. Relatamos duas mutações no gene GCK em heterozigose identificadas durante investigação de baixa estatura. Caso 1: paciente do sexo masculino, com 14 anos, pré-púbere, avaliado por atraso constitucional do crescimento e da puberdade. Durante o acompanhamento, apresentou glicemia de jejum alterada (113 mg/dL), aumento de HbA1c (6,6%) e anticorpos anticélulas β negativos. Seu pai e dois irmãos também apresentavam glicemia levemente elevada. A mãe tinha glicemia normal. Foi identificada no gene GCK uma mutação missense em heterozigose, p.Arg191Trp. Dezoito membros da família foram rastreados e 11 apresentavam essa mutação. Caso 2: paciente do sexo masculino, com 4 anos, em avaliação por baixa estatura. Não apresentou alterações laboratoriais, exceto por glicemia elevada ...

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Genetic and clinical characteristics of maturity‐onset diabetes of the young

Giuffrida

Reis

2004

Diabetes Obesity Metabolism

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Genetic factors play an important role in various forms of diabetes mellitus (DM), but inheritance is complex and interacts with environmental factors. Although in most cases type 2 DM (T2DM) and T1DM are polygenic disorders, several monogenic forms have been identified. Among them, maturity-onset diabetes of the young (MODY) has been the most intensively investigated. MODY is a group of six different forms of monogenic diabetes, characterized by insulin secretion defects in pancreatic beta-cells, supposed to be responsible for 2-5% of all cases of diabetes. The most common are MODY2 and MODY3, caused by mutations in the genes encoding glucokinase and hepatocyte nuclear factor 1-alpha respectively. MODY2 is characterized by glucose sensing defects, leading to an increase in insulin secretion threshold. This causes lifelong sustained and mild hyperglycaemia from birth, most often in non-diabetic levels. Diagnosis is incidental in most cases. These patients are asymptomatic, seldom need treatment and rarely present chronic complications. MODY3 is characterized by a severe insulin secretion defect in response to glucose. Diagnosis is made usually in adolescence and early adulthood, often by osmotic symptoms. Hyperglycaemia is progressive, and patients frequently need treatment with oral drugs or insulin some time in their follow up. This group seems to have a marked sensitivity to sulphonylureas compared to other types of diabetes. The recognition of MODY as a monogenic disorder and a thorough understanding of its pathophysiology are important for correct diagnosis and treatment, with great impact on prognosis. Besides, the study of these forms of diabetes brings important contributions to the understanding of glucose homeostasis as a whole.

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Diabetes Mellitus do Tipo MODY

Cited by 9 publications

References 41 publications

Maturity onset diabetes of the young: Diagnosis and treatment options

Maturity onset diabetes of the young: Diagnosis and treatment options

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects

Genetic and clinical characteristics of maturity‐onset diabetes of the young

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