论文部分内容阅读
目的探讨PAX6基因突变的无虹膜症患者是否存在糖代谢异常,并阐明其病理生理学特征。方法一个PAX6基因突变所致的无虹膜症家系包括19名健在的患者和4名无突变的正常成员。16名无虹膜症患者参与本研究,4名无突变的家系成员和12名健康成人作为正常对照(NC)组,8名无PAX6基因突变的新诊断2型糖尿病(T2DM)患者作为另一个对照组。通过OGTT,分析血糖、总胰岛素及胰岛素原水平的变化,采用胰岛素耐量试验(ITT)检测胰岛素敏感性。结果在16例PAX6基因突变的无虹膜症患者中,FPG与NC组无显著差别,OGTT 120min血糖显著高于NC组,其中糖耐量受损(IGT)5例和DM4例。PAX6基因突变患者的BMI均<23,胰岛素敏感性未见明显降低,OGTT30min总胰岛素水平显著降低,但胰岛素原/总胰岛素比值显著高于NC组和T2DM组,并且在糖耐量正常时即可见到这种变化。结论 PAX6基因突变患者存在糖代谢异常,大多表现为负荷后高血糖,其病理生理学基础主要是胰岛素原向胰岛素转化过程存在缺陷。
Objective To investigate the existence of abnormal glucose metabolism in patients with non-iris syndrome with PAX6 mutation and to elucidate its pathophysiological characteristics. Methods A non-iris schizophrenia family with mutations in the PAX6 gene included 19 healthy patients and 4 non-mutated normals. Sixteen patients with no iridocyts participated in this study. Four non-mutated pedigree members and twelve healthy adults served as normal control (NC) group. Eight new diagnosed type 2 diabetes (T2DM) patients without the PAX6 mutation were used as another control group. OGTT was used to analyze the changes of blood glucose, total insulin and proinsulin level. Insulin tolerance test (ITT) was used to detect insulin sensitivity. Results There was no significant difference between FPG and NC group in 16 patients with no PAX6 mutation. The blood glucose level at 120min after OGTT was significantly higher than that in NC group, including 5 IGT patients and 4 DM patients. Patients with PAX6 mutations had a BMI of <23, no significant decrease in insulin sensitivity, and a significant reduction of total insulin at 30 min of OGTT, but the ratio of proinsulin / total insulin was significantly higher than that of NC and T2DM groups, and was seen at normal glucose tolerance This change. Conclusion Patients with PAX6 mutations have abnormal glycometabolism, most of them show postprandial hyperglycemia. The main pathophysiology of PAX6 gene mutation is the defect of insulin-to-insulin conversion process.