National Institutes of Health Clinical Center, Bethesda, Maryland.
Biostatistics and Clinical Epidemiology Service, National Institutes of Health, Bethesda, Maryland.
J Clin Endocrinol Metab. 2018 Jun 1;103(6):2336-2345. doi: 10.1210/jc.2018-00208.
Patients with congenital adrenal hyperplasia (CAH) are at risk for life-threatening adrenal crises. Management of illness episodes aims to prevent adrenal crises.
We evaluated rates of illnesses and associated factors in patients with CAH followed prospectively and receiving repeated glucocorticoid stress dosing education.
Longitudinal analysis of 156 patients with CAH followed at the National Institutes of Health Clinical Center over 23 years was performed. The rates of illnesses and stress-dose days, emergency room (ER) visits, hospitalizations, and adrenal crises were analyzed in relation to phenotype, age, sex, treatment, and hormonal evaluations.
A total of 2298 visits were evaluated. Patients were followed for 9.3 ± 6.0 years. During childhood, there were more illness episodes and stress dosing than adulthood (P < 0.001); however, more ER visits and hospitalizations occurred during adulthood (P ≤ 0.03). The most robust predictors of stress dosing were young age, low hydrocortisone and high fludrocortisone dose during childhood, and female sex during adulthood. Gastrointestinal and upper respiratory tract infections (URIs) were the two most common precipitating events for adrenal crises and hospitalizations across all ages. Adrenal crisis with probable hypoglycemia occurred in 11 pediatric patients (ages 1.1 to 11.3 years). Undetectable epinephrine was associated with ER visits during childhood (P = 0.03) and illness episodes during adulthood (P = 0.03).
Repeated stress-related glucocorticoid dosing teaching is essential, but revised age-appropriate guidelines for the management of infectious illnesses are needed for patients with adrenal insufficiency that aim to reduce adrenal crises and prevent hypoglycemia, particularly in children.
先天性肾上腺皮质增生症（CAH）患者有发生危及生命的肾上腺危象的风险。疾病发作的管理旨在预防肾上腺危象。
我们评估了前瞻性随访并接受重复糖皮质激素应激剂量教育的 CAH 患者的疾病发作率及相关因素。
对 156 例在国立卫生研究院临床中心接受治疗超过 23 年的 CAH 患者进行了纵向分析。分析了表型、年龄、性别、治疗和激素评估与疾病发作、应激剂量天数、急诊室（ER）就诊、住院和肾上腺危象的关系。
共评估了 2298 次就诊。患者的随访时间为 9.3±6.0 年。在儿童期，疾病发作和应激剂量比成年期更多（P＜0.001）；然而，成年期 ER 就诊和住院更多（P≤0.03）。应激剂量的最强预测因素是年龄较小、儿童期氢化可的松水平较低和氟氢可的松剂量较高，以及成年期女性。胃肠道和上呼吸道感染（URI）是所有年龄段发生肾上腺危象和住院的两个最常见的诱发事件。11 例儿科患者（年龄 1.1 至 11.3 岁）出现疑似低血糖的肾上腺危象。儿茶酚胺水平检测不出与儿童期 ER 就诊（P=0.03）和成年期疾病发作（P=0.03）相关。
反复进行与应激相关的糖皮质激素剂量教育至关重要，但需要针对肾上腺功能不全患者制定新的、适合年龄的传染性疾病管理指南，旨在减少肾上腺危象和预防低血糖，特别是在儿童中。
