21-脱氧皮质醇在21-羟化酶缺乏症诊断及监测中的应用研究进展

Advances in application of 21-deoxycortisol in the diagnosis and monitoring of 21-hydroxylase deficiency

21-羟化酶缺乏症(21-hydroxylase deficiency,21-OHD)累及各个年龄阶段,可严重影响患者的生活质量,且失盐型病死率高,需要及时诊断并规范治疗。17-羟孕酮(17-hydroxyprogesterone,17-OHP)是筛查、诊断和监测21-OHD的传统指标。然而,17-OHP存在一些局限性:新生儿筛查假阳性率较高、波动较大以及受青春期及月经周期影响等。所以,需要更好的指标以协助临床诊疗。近年来,一些研究提出21-脱氧皮质醇(21-deoxycortisol,21-DF)可能是21-OHD更特异的标志物,其具有以下优点:21-DF在早产儿或其他形式的先天性肾上腺皮质增生症中不升高,且不受采血时间影响;21-DF是可靠的非经典21-OHD的诊断标志物;21-DF只来源于肾上腺。因此,该文对17-OHP的局限性及21-DF的相对优越性进行综述。

With the whole life involvement,21-hydroxylase deficiency(21-OHD)affects the quality of life,and the death rate of salt wasting form is high,thus the timely diagnosis and standardized treatment are needed.Traditionally,17-hydroxyprogesterone(17-OHP)is an indicator for screening,diagnosis and monitoring of 21-OHD.However,17-OHP has some limitations,such as high false-positive rate in neonatal screening,high fluctuation,and interference of puberty and menstrual cycle,etc.Therefore,attempts have been made to find better indicators to help guide clinical practice.Recently,several studies have suggested that 21-deoxycortisol(21-DF)may be a more specific marker for 21-OHD,which has the following advantages:no elevation is observed in premature infants or patients with other forms of congenital adrenal hyperplasia,and the blood sample timing doesn't affect the detection of 21-DF;21-DF is a reliable diagnostic marker of non-classical 21-OHD;adrenal gland is the only source of 21-DF.Therefore,this article reviews the limitations of 17-OHP and the relative advantages of 21-DF.