·病例报告·

　　【摘要】 皮质醇结合球蛋白(CBG)缺陷症是指CBG水平低下造成结合皮质醇水平减低，但游离皮质醇水平正常，是无皮质醇(COR)功能减退临床表现的一种罕见疾病。CBG在调节血液中的COR水平，转运孕酮，参与炎症反应等过程中发挥重要作用。编码CBG的基因SERPINA6位于14q32.1，含有5个外显子(其中4个为编码区)。目前已报道的CBG缺陷症较为罕见，通常认为与SERPINA6基因突变及SNP有关，但临床表型尚不明确。本文报道一例先证者为糖尿病的CBG缺陷症家系，在编码CBG的SERPINA6基因上发现两处SNP(rs80219741和rs2228541)，其中，一处与患者慢性疲乏的临床表型相关，但尚需基础研究该两处变异是否会影响SERPINA6基因表达及功能，及是否与糖尿病发病或进展间存在潜在联系。

　　【关键词】 糖尿病;慢性疲乏综合征;皮质醇结合球蛋白;基因突变;单核苷酸多态性

　　【Abstract】 CBG (corticosteroid-binding globulin) deficiency is a rare disease characterized as decreased binding cortisol level, normal free cortisol level and no clinical presentation of cortisol insufficiency. CBG plays an important role in regulating blood cortisol, transporting progesterone and is involved in inflammation process. The case report of CBG deficiency is rare. It is caused by gene mutation or single nucleotide polymorphisms (SNPs) that alter the production or function of CBG. Its clinical significance remains unclear. We reported a family with CBG deficiency with a diabetic proband. Two SNPs were found in the coding gene SERPINA6(rs8021974 and rs2228541). One of the SNPs was associated with clinical features of chronic fatigue. Further study is needed to explore whether these variations could affect gene function, cause the phenotype and whether they have correlations with diabetes.

　　【Key words】 Diabetes mellitus;Chronic fatigue syndrome;Corticosteroid-binding globulin;Gene mutation;Single nucleotide polymorphisms