RESUMEN
Reported associations between vitamin D receptor [VDR] polymorphism and type 1 diabetes mellitus vary across ethnic groups. We studied the association between type 1 diabetes and 4 VDR gene polymorphisms [Bb, Ff, Aa and Tt] in an Iranian population. A group of 69 patients with type 1 diabetes mellitus and 45 unrelated healthy subjects were recruited. The prevalence of VDR polymorphisms in 4 restriction fragment length polymorphism sites including BsmI, FokI, ApaI and TaqI were analysed in patients and controls. The frequencies of 3 genotypes [Aa, FF and Bb] were significantly higher in the patient group. The relationship between VDR gene polymorphisms and onset pattern of diabetes was not significant. There were no significant difference between the genotype frequencies and chronic complications of diabetes, but the relationship between the Ff genotype and ketoacidosis was significant. Our results differ from previous polymorphism studies in other regions
Asunto(s)
Humanos , Masculino , Femenino , Receptores de Calcitriol/genética , Polimorfismo Genético , Genotipo , Cetoacidosis Diabética/genética , Reacción en Cadena de la PolimerasaRESUMEN
We report a 2 month male child presenting with diabetic ketoacidosis (DKA) and seizures treated with intravenous fluids and intravenous insulin infusion till the ketoacidosis was reversed, thereafter responding well to sulphonylureas and at age of 13 months going into complete remission. At age of 11 mo developmental delay in the form of negative neck holding and inability to sit without support was seen. The child is 3 yr of age now ,euglycemic without any insulin or oral hypoglycemic agents but has severe developmental delay. Genetic analysis was negative for mutations of KCNJ11, 6q24, Glucokinase and IPF-1 genes. A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Cromosomas Humanos Par 6/genética , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/genética , Cetoacidosis Diabética/tratamiento farmacológico , Cetoacidosis Diabética/genética , Humanos , Hipoglucemiantes/uso terapéutico , Lactante , Insulina/uso terapéutico , Masculino , Mutación Puntual/genética , Canales de Potasio de Rectificación Interna/genética , Receptores de Droga/genética , Compuestos de Sulfonilurea/uso terapéuticoRESUMEN
O diabetes melito tipo 1 (DM1) caracteriza-se pela deficiência de insulina por causa da destruição das células-beta pancreáticas. O DM1 atualmente é classificado em dois subtipos: um auto-imune (DM1A) e outro não auto-imune (DM1B). O DM1A poligênico (isolado ou associado a outras doenças auto-imunes) é a forma mais prevalente. O DM1A pode fazer parte de síndromes raras em virtude de alterações monogênicas [gene regulador da auto-imunidade (AIRE)] e mutações no gene FOX-p3. O DM1B corresponde de 4 por cento a 7 por cento do DM1 e pode incluir formas não clássicas, como o diabetes fulminante e o DATC. Jovens com DM1A e sinais de resistência à insulina associados têm sido denominados de diabetes duplo (DD), tipo 1 e tipo 2. Nessa revisão são discutidas as patofisiologias e as características clínicas das formas raras de DM1A, o DM1B, as formas atípicas de DM1 não auto-imune e as inter-relações entre a inflamação subclínica da obesidade e o processo auto-imune do DM1A no DD. Em resumo, apresentamos o conceito de heterogeneidade do DM1.
Type 1 diabetes (T1D) comprises all forms of autoimmune-mediated and idiopathic beta-cell destruction leading to absolute insulin deficiency. The etiological heterogeneity of T1D has been recognized for the last decades, but it has been divided into only two subtypes so far: autoimmune (T1D)A and non-autoimmune (T1D)B mediated. Polygenic T1DA (isolated or associated to other autoimmune diseases) is the most prevalent type of T1D. T1DA might be part of rare monogenic syndromes related to mutations in the autoimmune regulator gene (AIRE) and FOXp3. Non-autoimmune forms of T1D correspond to approximately 4 to 7 percent of newly diagnosed T1D and include T1DB, as well as other types of atypical diabetes, for example fulminant type 1 diabetes and adult ketosis-prone diabetes. A new expression of diabetes in young with insulin resistance and obesity, along with the presence of pancreatic autoimmunity markers, namely auto-antibodies to islet cell antigens, is called double diabetes (DD), T1DA plus type 2 diabetes. Evidence has been collected concerning the potential effect of obesity-linked cytokines in amplifying the autoimmune response in DD. Therefore all these issues are presented and discussed in this review as the concept of heterogeneity of Type 1 Diabetes.
Asunto(s)
Humanos , Diabetes Mellitus Tipo 1 , Enfermedades Genéticas Ligadas al Cromosoma X , Poliendocrinopatías Autoinmunes , Enteropatías Perdedoras de Proteínas/fisiopatología , Diabetes Mellitus Tipo 1/clasificación , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/inmunología , Cetoacidosis Diabética/genética , Factores de Transcripción Forkhead/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/inmunología , Predisposición Genética a la Enfermedad/genética , Glucosafosfato Deshidrogenasa/genética , Antígenos HLA-DR/genética , Mutación , Poliendocrinopatías Autoinmunes/genética , Poliendocrinopatías Autoinmunes/inmunología , Enteropatías Perdedoras de Proteínas/genética , Síndrome , Factores de Transcripción/genéticaRESUMEN
Rabson-Mendenhall syndrome is characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, premature and dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia and post-prandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. We describe a six-month-old female child with physical features suggestive of the Rabson-Mendenhall syndrome. The child also had medullary nephrocalcinosis.