Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK.
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
J Clin Endocrinol Metab. 2021 Jan 1;106(1):e192-e203. doi: 10.1210/clinem/dgaa694.
Although congenital adrenal hyperplasia (CAH) is known to be associated with adrenal crises (AC), its association with patient- or clinician-reported sick day episodes (SDE) is less clear.
Data on children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, of which 7 were Low or Middle Income Countries (LMIC) and 11 were High Income (HIC), were collected from the International CAH Registry and analyzed to examine the clinical factors associated with SDE and AC.
A total of 518 children-with a median of 11 children (range 1, 53) per center-had 5388 visits evaluated over a total of 2300 patient-years. The median number of AC and SDE per patient-year per center was 0 (0, 3) and 0.4 (0.0, 13.3), respectively. Of the 1544 SDE, an AC was reported in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event, reported in 1105 (72%) and 29 (47%) of SDE and AC, respectively. On comparing cases from LMIC and HIC, the median SDE per patient-year was 0.75 (0, 13.3) vs 0.11 (0, 12.0) (P < 0.001), respectively, and the median AC per patient-year was 0 (0, 2.2) vs 0 (0, 3.0) (P = 0.43), respectively.
The real-world data that are collected within the I-CAH Registry show wide variability in the reported occurrence of adrenal insufficiency-related adverse events. As these data become increasingly used as a clinical benchmark in CAH care, there is a need for further research to improve and standardize the definition of SDE.
虽然已知先天性肾上腺皮质增生症（CAH）与肾上腺危象（AC）有关，但它与患者或临床医生报告的病假发作（SDE）之间的关系尚不清楚。
从 18 个国家的 34 个中心收集了患有经典 21-羟化酶缺乏症 CAH 的儿童数据，其中 7 个来自低收入或中等收入国家（LMIC），11 个来自高收入国家（HIC），并对这些数据进行了分析，以研究与 SDE 和 AC 相关的临床因素。
共有 518 名儿童（中位数为 11 名儿童，范围为 1-53 名），每个中心的就诊次数为 5388 次，总共有 2300 名患者就诊，就诊时间中位数为 11 年。每位患者每年每个中心的 AC 和 SDE 中位数分别为 0（0-3）和 0.4（0.0-13.3）。在 1544 次 SDE 中，有 62 次（4%）报告了 AC，无死亡病例。感染性疾病是最常见的诱发事件，分别有 1105 次（72%）和 29 次（47%）SDE 和 AC 报告了感染性疾病。在比较来自 LMIC 和 HIC 的病例时，每位患者每年的 SDE 中位数分别为 0.75（0-13.3）和 0.11（0-12.0）（P<0.001），每年的 AC 中位数分别为 0（0-2.2）和 0（0-3.0）（P=0.43）。
在 I-CAH 登记处收集的真实世界数据显示，报告的肾上腺功能不全相关不良事件的发生存在很大差异。随着这些数据越来越多地被用作 CAH 护理的临床基准，需要进一步研究以改进和规范 SDE 的定义。
