[先天性肾上腺皮质增生症治疗控制的可行方法。内分泌学问题]。

M A Tiulpakov, E V Nagaeva, N Y Kalinchenko, O B Bezlepkina
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引用次数: 0

摘要

先天性肾上腺皮质增生症(CAH)是一组常染色体隐性遗传疾病,需要终生接受糖皮质激素替代(GC)治疗。缺乏糖皮质激素治疗会导致男孩性早熟、女孩异性发育、骨骼成熟加速以及男女最终身高偏矮。在青春期,缺乏 GC 治疗会导致女孩月经失调,男孩出现 TART,从而降低两性的生殖潜能。另一方面,过量服用 GC 会导致药物诱发伊森科-库欣综合征。为了在儿童和青少年时期选择适当剂量的 GC,需要多次测定血浆中的 17-羟基孕酮、雄烯二酮和睾酮,从而进行多次静脉采血。采血需要经过专门培训的医务人员,而且由于应激反应,采血结果可能会受到影响,尤其是年轻患者。因此,开发和实施一种非侵入性的类固醇谱测定方法对于监测儿童的 GC 治疗极为重要。此外,目前使用的免疫荧光测定法无法确定其他肾上腺类固醇,而且由于结构相似的类固醇会产生 "交叉反应",因此结果会有很大差异。与免疫荧光法不同,液相色谱法和串联质谱法更具特异性和准确性,是更可取的方法。在这篇文献综述中,唾液作为一种替代底物和非侵入性方法被用来测定类固醇概况。这种方法可以解决上述缺点,简化并更准确地选择 CAH 患者的 GC 疗法,这在儿童期尤为重要。
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[A promising approach for therapy control in congenital adrenal hyperplasia. Problems of Endocrinology].

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders requiring lifelong glucocorticoid replacement (GC) therapy. Lack of GC therapy leads to precocious puberty in boys, heterosexual development in girls, accelerated bone maturation and short final height in both sexes. In adolescence, the lack of GC therapy is the cause of menstrual disorders in girls and the development of TART in boys, as a result reducing the reproductive potential in both sexes. On the other hand, an overdose of GC leads to drug-induced Itsenko-Cushing's syndrome. In order to select adequate doses of GC in childhood and adolescence, multiple determinations of 17-hydroxyprogesterone, androstenedione, and testosterone in blood plasma, and thus multiple venous blood sampling are required. The blood sampling requires specially trained medical staff and can effect on the results due to stress reaction especially in young patients. Hence, the development and implementation of a non-invasive method for determining the steroid profile is extremely important in monitoring GC therapy in children. In addition, the currently used immunofluorescence assay cannot determine other adrenal steroids, has a high variation due to the «cross-reaction» of steroids that are similar in structure, which inflates the results. Unlike immunofluorescence assay, liquid chromatography and tandem mass spectrometry is more preferable method, since it is more specific and accurate. In this literature review, saliva presented as an alternative substrate and the non-invasive method for determining the steroid profile. This method can solve the above disadvantages, simplify and make more accurate the selection of GC therapy in patients with CAH, which is especially important in childhood.

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