散发性自身免疫性艾迪生病中自身免疫调节因子（AIRE）基因的突变分析可发现未确诊的Ⅰ型自身免疫性多内分泌腺综合征患者。
Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I.
作者信息
Bøe Anette S, Knappskog Per M, Myhre Anne Grethe, Sørheim Jan I, Husebye Eystein S
机构信息
Division of Endocrinology, Institute of Medicine, Haukeland University Hospital, N-5021 Bergen, Norway.
出版信息
Eur J Endocrinol. 2002 Apr;146(4):519-22. doi: 10.1530/eje.0.1460519.
OBJECTIVE
To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I).
MATERIALS AND METHODS
Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegian autoimmune regulator (AIRE) gene mutations.
RESULTS
A 30-year old man who had developed Addison' s disease at the age of 12, but had no other components of APS I, was homozygous for the 1094-1106 deletion mutation in exon 8 of the AIRE gene, the most common mutation found in Norway.
CONCLUSIONS
APS I patients with milder and atypical phenotypes are difficult to diagnose on clinical grounds. Autoantibody analysis and mutational analysis of AIRE may therefore be helpful modalities for identifying these individuals.
目的
调查艾迪生病和多内分泌综合征患者是否患有未被诊断出的Ⅰ型自身免疫性多内分泌综合征（APS Ⅰ）。
材料与方法
对40例临床表现类似APS Ⅰ且具有该病典型自身抗体的患者进行挪威自身免疫调节因子（AIRE）基因突变筛查。
结果
一名30岁男性，12岁时患艾迪生病，但无APS Ⅰ的其他症状，其AIRE基因第8外显子1094 - 1106缺失突变呈纯合状态，这是挪威发现的最常见突变。
结论
具有较轻和非典型表型的APS Ⅰ患者难以通过临床依据进行诊断。因此，AIRE自身抗体分析和突变分析可能有助于识别这些个体。
Zotero 插件