Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics
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DOI：
10.1046/j.1464-5491.2002.00766.x
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发表时间：
2002-09-01
影响因子：
3.5
通讯作者：
Hattersley, AT
中科院分区：
文献类型：
--
作者：
Owen, KR;Shepherd, M;Hattersley, AT
目的描述肝细胞核因子（HNF）1 α突变携带者在25年后诊断为糖尿病的特点，并与同年龄诊断的初发2型糖尿病患者（YT 2D）进行比较。（21名男性，23例女性），25岁时诊断为糖尿病的HNF-1 α突变患者，结果两组糖尿病发病的中位年龄均为35岁。HNF-1 α组显示：较低的体重指数（25.1 vs. 30.7 kg/m2; P < 0.001）和较低的空腹甘油三酯（1.37 vs. 2.96 mmol/l; P = 0.001），空腹胆固醇水平相似。尽管糖尿病病程较长（24年对16年; P = 0.02），胰岛素治疗频率较低（21%对55%; P = 0.002），但他们的糖化血红蛋白A（1c）较低（7.3%对8.5%; P = 0.015）。他们不太可能接受高血压治疗（13.3% vs. 56.3%; P = 0.009）。重要的是，两组之间报告的父母糖尿病史无差异（65.9% vs. 63.6%; P = 0.92）。结论HNF-1α基因突变的糖尿病患者可能以25-45岁的青壮年为首发症状。在这个年龄范围内，观察到糖尿病的广泛鉴别诊断。发病年龄和家族史的传统标准不能区分HNF-1α突变携带者和该年龄范围内的YT 2D受试者，但代谢综合征的特征，特别是空腹甘油三酯和高血压，是有帮助的。在45岁以前诊断的无胰岛素抵抗特征的患者中，应考虑HNF-1α的诊断。
Aims To describe the characteristics of hepatocyte nuclear factor (HNF) 1alpha mutation carriers diagnosed with diabetes after 25 years and compare them with young-onset Type 2 diabetic patients (YT2D) diagnosed at the same age.Subjects and methods We studied 44 (21 male, 23 female) patients with HNF-1alpha mutations diagnosed with diabetes at ages 25-45 years and 44 YT2D subjects matched for sex and age of diagnosis.Results Median age of onset of diabetes was 35 years in both groups. The HNF-1alpha group demonstrated: lower body mass index (25.1 vs. 30.7 kg/m(2); P < 0.001) and lower fasting triglycerides (1.37 vs. 2.96 mmol/l; P = 0.001) with similar fasting cholesterol level. They had lower glycated haemoglobin A(1c) (7.3 vs. 8.5%; P = 0.015) despite greater duration of diabetes (24 vs. 16 years; P = 0.02) and less frequent treatment with insulin (21% vs. 55%; P = 0.002). They were less likely to be treated for hypertension (13.3% vs. 56.3%; P = 0.009). Importantly, no difference was observed in reported parental history of diabetes between the two groups (65.9% vs. 63.6%; P = 0.92). Logistic regression showed that triglyceride levels and presence of anti-hypertensive treatment were the most important independent variables.Conclusions Patients with HNF-1α mutations may present with diabetes as young adults between the ages of 25-45 years. In this age range a wide differential diagnosis of diabetes is observed. Conventional criteria of age of onset and family history will not differentiate HNF-1α mutation carriers from YT2D subjects in this age range, but features of the metabolic syndrome, in particular fasting triglycerides and hypertension, are helpful. In patients diagnosed before 45 years without features of insulin resistance the diagnosis of HNF-1α should be considered.