Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS-1) is a rare autosomal recessive disorder and diabetes (DM) is one of its more rare manifestations. Earlier, we have showed that reduction in fractional glucose removal rate (KG) , a known precursor of increased peripheral insulin resistance over time, was the only predictor candidate of abrupt, atypical APECED DM onset. We now explored if these changes in KG were age-dependent, and independent of DM status in all patients with APECED. Materials and Methods: Bi-annually conducted intravenous glucose tolerance tests (ivGTT) and calculated KG values (0.693/T1/2Gluc*100) were reviewed for the Finnish APECED cohort (children and adults screened for DM in 1972-2000) . Pearson correlation coefficients (r) for KG and age at ivGTT were calculated with 2-sided p-values. A Fisher t to z transformation and a z-test were performed to investigate the difference between the groups (with DM diagnosis: DM+; without: DM-) . Results: A total of 258 ivGTTs were performed on 13 DM+ (mean age at DM onset 27.8 ±11.7 years) and 46 DM- patients. KG values decreased over time in both groups (Figure) , with no statistical difference in the r-values between the groups (z=0.763, p=0.22) . Conclusion: As markers of peripheral glucose uptake decline similarly over time in all patients with APECED, independent of DM status, we still lack accurate predictors of atypical DM onset in APECED. Disclosure E.R.Sandini: None. S.Laakso: None. O.Makitie: Advisory Panel; Kyowa Kirin Co., Ltd., Consultant; BridgeBio Pharma, Inc., Speaker's Bureau; Merck & Co., Inc. P.M.Paldanius: Consultant; Glyconics Ltd, UPM Biomedicals, Speaker's Bureau; Novartis AG, UPM Biomedicals. Funding Helsinki University Hospital; Foundation for Pediatric Research

中文翻译：

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1512-PUB：APECED 患者的葡萄糖去除率

背景：自身免疫性多内分泌病-念珠菌病-外胚层营养不良（APECED或APS-1）是一种罕见的常染色体隐性遗传病，糖尿病（DM）是其较为罕见的表现之一。早些时候，我们已经表明，葡萄糖去除率 (KG) 的降低是已知的外周胰岛素抵抗随时间增加的前兆，是突然、非典型 APECED DM 发作的唯一预测候选者。我们现在探讨了 KG 的这些变化是否与年龄相关，并且与所有 APECED 患者的 DM 状态无关。材料和方法：对芬兰 APECED 队列（1972-2000 年筛查 DM 的儿童和成人）每两年进行一次静脉葡萄糖耐量试验 (ivGTT) 和计算的 KG 值 (0.693/T1/2Gluc*100)。ivGTT 的 KG 和年龄的 Pearson 相关系数 (r) 用 2 侧 p 值计算。进行Fisher t to z 转换和z 检验以研究组之间的差异（有DM 诊断：DM+；无：DM-）。结果：总共对 13 名 DM+（DM 发病的平均年龄 27.8 ±11.7 岁）和 46 名 DM- 患者进行了 258 次 ivGTT。两组的 KG 值均随时间下降（图），两组之间的 r 值无统计学差异（z=0.763，p=0.22）。结论：由于所有 APECED 患者的外周葡萄糖摄取标志物随着时间的推移相似地下降，与 DM 状态无关，我们仍然缺乏 APECED 中非典型 DM 发病的准确预测因子。披露 ERSandini：无。S.Laakso：没有。O.Makitie：咨询小组；协和麒麟株式会社，顾问；BridgeBio Pharma, Inc.，演讲者 局；Merck & Co., Inc. PMPaldanius：顾问；Glyconics Ltd、UPM Biomedicals、发言人局；诺华公司，芬欧汇川生物医学。资助赫尔辛基大学医院；儿科研究基金会