Stratakis C A, Sarlis N, Kirschner L S, Carney J A, Doppman J L, Nieman L K, Chrousos G P, Papanicolaou D A
National Institutes of Health, Bethesda, Maryland 20892-1862, USA.
Ann Intern Med. 1999 Oct 19;131(8):585-91. doi: 10.7326/0003-4819-131-8-199910190-00006.
Primary pigmented nodular adrenocortical disease causes the Cushing syndrome in children and young adults and is most frequently associated with the Carney complex.
To evaluate diagnostic tests for primary pigmented nodular adrenocortical disease.
Retrospective cohort study.
Tertiary care center.
21 patients with primary pigmented nodular adrenocortical disease. The control groups consisted of 9 patients with macronodular adrenocortical disease and 15 patients with primary unilateral adrenocortical disease (single adenomas).
Clinical characteristics, radiologic imaging, and a 6-day Liddle test with determination of urinary free cortisol and 17-hydroxycorticosteroid excretion.
Adrenal imaging and other tests were of limited value for the diagnosis of primary pigmented nodular adrenocortical disease. The Liddle test, however, distinguished patients with this disorder from those with other primary adrenocortical lesions. An increase of 50% or more in urinary free cortisol levels on day 6 of the Liddle test identified 9 of 13 patients (69.2% [95% CI, 46.6% to 91.8%]) with primary pigmented nodular adrenocortical disease, excluded all patients with macronodular adrenocortical disease, and was present in only 3 of the 15 patients with single adrenocortical adenomas (20% [CI, 0% to 40.2%]). An increase in urinary free cortisol excretion of 100% or more on day 6 of the Liddle test identified only patients with primary pigmented nodular adrenocortical disease.
Patients with primary pigmented nodular adrenocortical disease responded to dexamethasone with a paradoxical increase in glucocorticoid excretion during the Liddle test. This feature distinguishes such patients from those who have the Cushing syndrome caused by other primary adrenal disorders and may lead to timely detection of the Carney complex (a potentially fatal disorder) in asymptomatic patients.
原发性色素沉着性结节性肾上腺皮质疾病可导致儿童和年轻成人出现库欣综合征，且最常与卡尼综合征相关。
评估原发性色素沉着性结节性肾上腺皮质疾病的诊断试验。
回顾性队列研究。
三级医疗中心。
21例原发性色素沉着性结节性肾上腺皮质疾病患者。对照组包括9例大结节性肾上腺皮质疾病患者和15例原发性单侧肾上腺皮质疾病（单个腺瘤）患者。
临床特征、影像学检查，以及进行为期6天的利德尔试验并测定尿游离皮质醇和17 - 羟皮质类固醇排泄量。
肾上腺影像学检查和其他试验对原发性色素沉着性结节性肾上腺皮质疾病的诊断价值有限。然而，利德尔试验可将该疾病患者与其他原发性肾上腺皮质病变患者区分开来。利德尔试验第6天尿游离皮质醇水平升高50%或更多可识别出13例原发性色素沉着性结节性肾上腺皮质疾病患者中的9例（69.2% [95%可信区间，46.6%至91.8%]），排除了所有大结节性肾上腺皮质疾病患者，且15例单个肾上腺皮质腺瘤患者中仅3例出现该情况（20% [可信区间，0%至40.2%]）。利德尔试验第6天尿游离皮质醇排泄量增加100%或更多仅见于原发性色素沉着性结节性肾上腺皮质疾病患者。
原发性色素沉着性结节性肾上腺皮质疾病患者在利德尔试验中对地塞米松的反应是糖皮质激素排泄出现反常增加。这一特征将此类患者与由其他原发性肾上腺疾病引起的库欣综合征患者区分开来，且可能有助于在无症状患者中及时发现卡尼综合征（一种潜在致命性疾病）。
