IMMUNOGENETICS OF POLYGLANDULAR FAILURE

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 通过这个方案，我们试图了解自身免疫性疾病和1型糖尿病之间的联系。特别是，患有1型糖尿病的受试者患爱迪生病的风险增加。爱迪生病是肾上腺功能衰竭，以皮质醇和醛固酮不足为特征。它的发病通常是潜伏的，受试者在被诊断之前经历了多年的症状。然而，它是危及生命的，未被或误诊的爱迪生病可能与肾上腺危机和死亡有关。 爱迪生病与21-羟基酶自身抗体的产生有关。这些自身抗体存在于1.5%的1型糖尿病患者中，这些自身抗体的产生提醒我们肾上腺功能不全的重大疾病的风险。这些抗体可能在肾上腺衰竭发生之前存在很多年。肾上腺功能的评估需要刺激试验，特别是ACTH的刺激。促肾上腺皮质激素刺激肾上腺产生皮质醇，皮质醇反应不足是肾上腺功能不全的诊断。 通过这个方案，用ACTH刺激试验评估21-羟基酶抗体阳性的受试者是否存在肾上腺功能不足。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Through this protocol we are attempting to understand the association of autoimmune diseases and type 1 diabetes. In particular, subjects with type 1 diabetes are at an increased risk for Addison's disease. Addison's disease is adrenal gland failure and is characterized by cortisol and aldosterone insufficiency. Its onset is often insidious with subjects experiencing many years of symptoms prior to being diagnosed. However, it is life threatening and un- or misdiagnosed Addison's disease can be associated with adrenal crisis and death. Addison's disease is associated with the production of 21-hydroxylase autoantibodies. These autoantibodies are present in 1.5% of our patients with type 1 diabetes and the production of these autoantibodies alerts us to the risk for significant illness with adrenal insufficiency. These antibodies may be present for many years prior to the development of adrenal gland failure. Assessment of adrenal gland function requires stimulation testing, in particular ACTH stimulation. ACTH stimulates the adrenal gland to produce cortisol and an inadequate response of cortisol is diagnostic of adrenal insufficiency. Through this protocol subjects with 21-hydroxylase antibodies are evaluated for adrenal insufficient with ACTH stimulation testing.