Plensa I, Pavía C, Ercilla M G, Gallart M, Valls C, Pérez I
Sección de Endocrinología, Hospital de Sant Joan de Déu, Barcelona.
Med Clin (Barc). 1992 Jun 20;99(4):132-6.
Diabetes is more frequently found than expected in families of first grade with children with diabetes type I.
With the aim of identifying the potential candidates prone to develop diabetes type I, genetic and metabolic analysis was carried out on the members of 11 families with a diabetic type I child. They were distributed into three groups: 11 diabetic patients (IDDM); 22 progenitors and 13 unaffected siblings. The HLA haplotype was determined, the spectrum of autoantibodies and the intravenous glucose tolerance test (IVTT) were performed.
In two progenitors postprandial glycemia values corresponding to intolerance to carbon hydrates were obtained. Moreover, in one the IVTT was found to be low in the normal values. Of a total of 12 non diabetic descendents studied, 4 shared identical HLA haplotypes as the diabetic, 5 were haploidentical and 3 unidentical. The DR 3 antigen was detected in 90% of the diabetics; in 68% of the progenitor group and in 50% of the non diabetic descendents. Sixty-two percent of the children inherited the DR 4 antigen of the father (p less than 0.05), while 37% do so from the mother. Of the siblings with a haplotype identical to that of the diabetic, 2 were also ICA positive; asymptomatic at the moment of the study but in one the diabetes type I became manifest after 2 years of evolution.
Subjects at high risk of becoming type I diabetics may be identified at a preclinical phase by means of HLA typing and the detection of immunologic and metabolic markers associated with the disease.
在患有Ⅰ型糖尿病儿童的一级亲属家庭中,糖尿病的发现频率高于预期。
为了确定易患Ⅰ型糖尿病的潜在候选者,对11个有Ⅰ型糖尿病患儿的家庭的成员进行了基因和代谢分析。他们被分为三组:11名糖尿病患者(胰岛素依赖型糖尿病);22名父母和13名未受影响的兄弟姐妹。确定了HLA单倍型,进行了自身抗体谱分析和静脉葡萄糖耐量试验(IVTT)。
在两名父母中获得了与碳水化合物不耐受相对应的餐后血糖值。此外,其中一人的IVTT在正常值范围内较低。在总共研究的12名非糖尿病后代中,4人与糖尿病患者具有相同的HLA单倍型,5人是单倍型相同,3人不同。90%的糖尿病患者检测到DR3抗原;在父母组中为68%,在非糖尿病后代中为50%。62%的儿童从父亲那里继承了DR4抗原(p<0.05),而37%的儿童从母亲那里继承。在与糖尿病患者单倍型相同的兄弟姐妹中,2人ICA也呈阳性;在研究时无症状,但其中1人在2年的病程后出现了Ⅰ型糖尿病。
通过HLA分型以及检测与该疾病相关的免疫和代谢标志物,可在临床前期识别出有发展为Ⅰ型糖尿病高风险的个体。