家族性糖皮质激素缺乏症研究进展

Progress in the study of familial glucocorticoid deficiency

家族性糖皮质激素缺乏症(familial glucocorticoid deficiency,FGD)是以单一皮质醇缺乏而醛固酮、肾素水平正常为特征的一种罕见常染色体隐性遗传病,由Shepard等于1959年首次报道。FGD发病年龄早晚不一,新生儿期至成年期均可发病,也因发病年龄不同临床表现各异。由于该疾病与原发性肾上腺功能不全的其他病因具有很多相似之处,临床鉴别和诊断困难,容易误诊。

Familial glucocorticoid deficiency(FGD)is a rare autosomal recessive disease characterized by a single cortisol deficiency and normal aldosterone and renin levels,reported by Shepard et al.in 1959 for the first time.The onset age of FGD may be early or later,from neonatal to adult.The clinical manifestations vary due to the different age at onset.The clinical identification was difficult and would be prone to misdiagnosis because the disease may have many similarities with primary adrenal insufficiency(PAI)caused by other reasons.