Meyer Patrick
Service d'endocrinologie, diabétologie et nutrition HUG, 1211 Genève 14.
Rev Med Suisse. 2009 Jan 7;5(185):15-8.
Pheochromocytoma, primary aldosteronism and Cushing's syndrome are uncommon disorders and are difficult to diagnose because laboratory tests lack validation and specificity. Despite these limitations, practice guidelines are proposed to standardize the screening procedure. The most reliable method to diagnose pheochromocytoma is the measurement of plasmatic and/or urinary metanephrines and normetanephrines depending on the pre-test probability of the disease. The approach for detection of primary aldosteronism is based on the aldosterone-renin ratio under standard conditions. Finally, three tests are available to establish the diagnosis of Cushing's syndrome: 24-h urinary free cortisol excretion, low-dose dexamethasone suppression test and the recent and promising late evening salivary cortisol.
嗜铬细胞瘤、原发性醛固酮增多症和库欣综合征是罕见疾病,由于实验室检查缺乏有效性和特异性,诊断困难。尽管存在这些局限性,仍提出了实践指南以规范筛查程序。诊断嗜铬细胞瘤最可靠的方法是根据疾病的检测前概率测定血浆和/或尿甲氧基肾上腺素和去甲氧基肾上腺素。原发性醛固酮增多症的检测方法是基于标准条件下的醛固酮-肾素比值。最后,有三项检查可用于确立库欣综合征的诊断:24小时尿游离皮质醇排泄、小剂量地塞米松抑制试验以及最新且有前景的午夜唾液皮质醇检测。