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首页> 外文期刊>Pediatric diabetes. >Familial type 1 diabetes mellitus - gender distribution and age at onset of diabetes distinguish between parent-offspring and sib-pair subgroups.
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Familial type 1 diabetes mellitus - gender distribution and age at onset of diabetes distinguish between parent-offspring and sib-pair subgroups.

机译：家族性1型糖尿病-糖尿病发作时的性别分布和年龄区分父母后代和同胞对亚组。

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BACKGROUND: Familial type 1 diabetes mellitus (T1D) comprises parent-offspring and sib-pair subgroups. OBJECTIVE: To compare the demographic and clinical characteristics in the two subgroups at diagnosis and evaluate the differences between index cases and second affected family members. METHODS: Retrieved from our institutional registry of new T1D cases for the years 1979-2008 were a cohort of 194 familial cases (87 parent-offspring, 107 sib-pairs); 133 sporadic cases matched by age, gender, and year of diagnosis were selected as controls. Extracted from their medical files were demographic data, family background, clinical and laboratory findings. RESULTS: The parent-offspring subgroup was characterized by male preponderance (p = 0.009). At diagnosis parents were significantly older than their offspring (p < 0.001) and probands were significantly younger than their affected siblings (p = 0.03). Clinical symptoms and metabolic decompensation were similar in the familial subgroups. Diabetic ketoacidosis (DKA) rate and hemoglobin A1c (HbA1c) levels were lower in second affected family members in both parent-offspring (p = 0.05 and p < 0.001) and sib-pair subgroups (p < 0.001, for both parameters). Consanguinity and T1D were more frequent in the extended family of familial than sporadic cases (p < 0.001 and p = 0.012, respectively) with no difference between the two subgroups. CONCLUSIONS: The genetic background for T1D would appear to differ not only between familial and sporadic cases but also between parent-offspring and sib-pair subgroups. Whereas differences in age of onset are attributable to both genetic and environmental factors, the less severe clinical manifestations in second affected family members may result from increased awareness or a less aggressive disease process.
机译：背景：家族性1型糖尿病（T1D）包括父母后代和同胞对亚组。目的：比较两个亚组在诊断时的人口统计学和临床​​特征，并评估索引病例与第二个受影响家庭成员之间的差异。方法：从我们的机构登记册中检索到1979-2008年间的新T1D病例队列，其中包括194个家族病例（87个亲子后代，107个同胞对）。选择年龄，性别和诊断年份相匹配的133例散发病例作为对照。从他们的医疗档案中提取人口统计数据，家庭背景，临床和实验室检查结果。结果：父母-后代亚组的特点是男性优势（p = 0.009）。在诊断时，父母的年龄明显大于其后代（p <0.001），而先证者的年龄明显小于其受影响的兄弟姐妹（p = 0.03）。家族亚组的临床症状和代谢失代偿相似。在父母-后代（p = 0.05和p <0.001）和同胞对亚组（两个参数，p <0.001）中，第二个受影响家庭成员的糖尿病酮症酸中毒（DKA）率和血红蛋白A1c（HbA1c）水平较低。与散发性病例相比，家族性家族中血缘和T1D的发生率更高（分别为p <0.001和p = 0.012），两个亚组之间没有差异。结论：T1D的遗传背景似乎不仅在家族病例和散发病例之间存在差异，而且在亲子后代和同胞对亚组之间也存在差异。尽管发病年龄的差异既可归因于遗传因素也可归因于环境因素，但第二个受影响家庭成员的较轻临床表现可能是由于意识增强或疾病进程较弱所致。

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