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1.
Diabet Med ; 32(7): 963-7, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25809823

RESUMO

AIMS: Abnormalities in the imprinted locus on chromosome 6q24 are the most common causes of transient neonatal diabetes mellitus (6q24-related transient neonatal diabetes). 6q24-Related transient neonatal diabetes is characterized by the patient being small-for-gestational age, diabetes mellitus at birth, spontaneous remission within the first few months and frequent recurrence of diabetes after childhood. However, it is not clear whether individuals with 6q24 abnormalities invariably develop transient neonatal diabetes. This study explored the possibility that 6q24 abnormalities might cause early-onset, non-autoimmune diabetes without transient neonatal diabetes. METHODS: The 6q24 imprinted locus was screened for abnormalities in 113 Japanese patients with early-onset, non-obese, non-autoimmune diabetes mellitus who tested negative for mutations in the common maturation-onset diabetes of the young (MODY) genes and without a history of transient neonatal diabetes. Positive patients were further analysed by combined loss of heterozygosity / comparative genomic hybridization analysis and by microsatellite analysis. Detailed clinical data were collected through the medical records of the treating hospitals. RESULTS: Three patients with paternal uniparental isodisomy of chromosome 6q24 were identified. None presented with hyperglycaemia in the neonatal period. Characteristically, these patients were born small-for-gestational age, representing 27.2% of the 11 patients whose birth weight standard deviation score (SDS) for gestational age was below -2.0. CONCLUSIONS: Abnormalities in the imprinted locus on chromosome 6q24 do not necessarily cause transient neonatal diabetes. Non-penetrant 6q24-related diabetes could be an underestimated cause of early-onset, non-autoimmune diabetes in patients who are not obese and born small-for-gestational age.


Assuntos
Doenças Autoimunes/etiologia , Transtornos Cromossômicos/fisiopatologia , Cromossomos Humanos Par 6 , Diabetes Mellitus/etiologia , Adolescente , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/genética , Índice de Massa Corporal , Criança , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Diabetes Mellitus Tipo 2/diagnóstico , Diagnóstico Diferencial , Saúde da Família , Feminino , Loci Gênicos , Testes Genéticos , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Japão , Masculino , Adulto Jovem
2.
Diabet Med ; 31(11): 1357-62, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24804978

RESUMO

AIMS: To investigate the molecular and clinical characteristics of the largest series of Japanese patients with glucokinase maturity-onset diabetes of the young (GCK-MODY), and to find any features specific to Asian people. METHODS: We enrolled 78 Japanese patients with GCK-MODY from 41 families (55 probands diagnosed at the age of 0-14 years and their 23 adult family members). Mutations were identified by direct sequencing or multiplex ligation-dependent probe amplification of all exons of the GCK gene. Detailed clinical and laboratory data were collected on the probands using questionnaires, which were sent to the treating physicians. Data on current clinical status and HbA1c levels were also collected from adult patients. RESULTS: A total of 35 different mutations were identified, of which seven were novel. Fasting blood glucose and HbA1c levels of the probands were ≤9.3 mmol/l and ≤56 mmol/mol (7.3%), respectively, and there was considerable variation in their BMI percentiles (0.4-96.2). In total, 25% of the probands had elevated homeostatic assessment of insulin resistance values, and 58.3% of these had evidence of concomitant Type 2 diabetes in their family. The HbA1c levels for adults were slightly higher, up to 61 mmol/mol (7.8%). The incidence of microvascular complications was low. Out of these 78 people with GCK-MODY and 40 additional family members with hyperglycaemia whose genetic status was unknown, only one had diabetic nephropathy. CONCLUSIONS: The molecular and clinical features of GCK-MODY in Japanese people are similar to those of other ethnic populations; however, making a diagnosis of GCK-MODY was more challenging in patients with signs of insulin resistance.


Assuntos
Diabetes Mellitus Tipo 2/genética , Angiopatias Diabéticas/epidemiologia , Saúde da Família , Glucoquinase/genética , Resistência à Insulina , Mutação , Doenças Vasculares Periféricas/complicações , Adulto , Idoso , Substituição de Aminoácidos , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/metabolismo , Diabetes Mellitus Tipo 2/terapia , Angiopatias Diabéticas/prevenção & controle , Feminino , Deleção de Genes , Estudos de Associação Genética , Glucoquinase/metabolismo , Hemoglobinas Glicadas/análise , Humanos , Hipoglicemiantes/uso terapêutico , Incidência , Japão/epidemiologia , Masculino , Microvasos/efeitos dos fármacos , Pessoa de Meia-Idade , Doenças Vasculares Periféricas/epidemiologia , Doenças Vasculares Periféricas/prevenção & controle , Polimorfismo de Nucleotídeo Único
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