肝豆状核变性内分泌HPA轴功能研究

Functional Study of Hypothalamic Pituitary Adrenal Axis in Hepatolenticular Degeneration

目的:了解肝豆状核变性(hepatolenticular degenemtion,HLD)下丘脑-垂体-肾上腺轴(the hypothalamic–pituitary–adrenal axis,HPA)分泌功能。方法:选取未经治疗的HLD患者组45例和健康对照组25例,用化学发光免疫分析法分别测定血浆中促肾上腺皮质激素(adrenocorticotropic hormone,ACTH)、血清皮质醇(COR)、24h尿游离皮质醇(UFC),用比色法测24小时尿17-羟皮质类固醇(17-hydroxy-cortico-steroid,17-OHCS)、17-酮类固醇(17-ketosteroide,17-KS),比较两组之间上述指标有无差异。并对10例患者进行ACTH刺激试验,比较刺激前后COR、17-OHCS、血嗜酸性粒细胞计数。结果:未经治疗的HLD患者组ACTH、COR,24hUFC,17-OHCS、17-KS均明显低于正常组,10例HLD患者ACTH刺激试验,刺激后COR、17-OHCS、血嗜酸性粒细胞计数均明显升高,显示肾上腺对外源性ACTH的刺激反应活跃。结论:HLD患者垂体分泌功能下降并存在继发性肾上腺皮质功能减退。

Objective： To study the secretory function of hypothalamic pituitary adrenal axis（ HPA） in hepatolenticular degeneration（ HLD）. Methods： The levels of adrenocorticotropic hormone（ ACTH）,serum cortisol（ COR） in plasma and 24 h urinary free cortisol（ UFC） of 45 untreated HLD patients and 25 healthy controls were measured by chemiluminescence immunoassay,and then 17-hydroxy-cortico-steroid（ 17-OHCS） and 17-ketosteroide（ 17-KS） in 24 hour urine were measured by colorimetric assay. The indices above were compared between the two groups. ACTH stimulation test was performed on 10 patients. COR,17-OHCS and eosinophil count were measured and compared before and after stimulation. Results： The levels of ACTH,COR,24 hUFC,17-OHCS,17-KS in untreated HLD group were lower than those in normal group,and COR,17-OHCS and blood eosinophil count in 10 cases of HLD patients were obviously increased after ACTH stimulation. Adrenal gland showed an active response after stimulation of exogenous ACTH. Conclusion： Pituitary secretory function is decreased in patients with HLD,and secondary adrenal hypofunction is present.