目的:先天性肾上腺皮质增生症(CAH)患者需要终身糖皮质激素替代治疗,包括压力剂量(SD)。这项研究前瞻性评估肾上腺危象(AC)的发生率,频率,以及成人和儿科患者及其父母的SD和疾病知识的详细信息。
方法:前瞻性,观察性研究。
方法:通过患者日记收集关于AC和SD的数据。如果是AC,我们审查了医疗记录,并对患者进行了访谈.使用德语版CAH知识评估问卷(CAHKAQ)评估了德国内分泌学学会(DGE)的病假规则和疾病知识的遵守情况。
结果:在187名成年患者中,在38名儿童中,AC发病率为8.4/100患者年(py)和5.1/100患者年.在成年人中,记录了每100py195.4次SD发作,在儿童中,每100人169.7。儿童占72.3%,成人占34.8%,根据建议进行SD。儿童在CAHKAQ上的得分高于成人(18.0[1.0]vs16.0[4.0];P=.001)。在成年人中,SD的频率与AC的发生率(r=0.235,P=0.011)和CAHKAQ评分(r=0.233,P=0.014)呈正相关,在AC和CAHKAQ的发生率之间(r=.193,P=.026)。
结论:在患有CAH的儿童和成人中,AC的发生率和SD的频率较高。与儿科队列相反,成年人中的大多数SD不符合DGE的建议,强调需要对患者进行结构化和重复的教育,特别关注过渡。
OBJECTIVE: Patients with congenital adrenal hyperplasia (CAH) require life-long glucocorticoid replacement, including stress dosing (SD). This study prospectively assessed adrenal crisis (AC) incidence, frequency, and details of SD and disease knowledge in adult and paediatric patients and their parents.
METHODS: Prospective, observational study.
METHODS: Data on AC and SD were collected via a patient diary. In case of AC, medical records were reviewed and patient interviews conducted. Adherence to sick day rules of the German Society of Endocrinology (DGE) and disease knowledge using the German version of the CAH knowledge assessment questionnaire (CAHKAQ) were assessed.
RESULTS: In 187 adult patients, the AC incidence was 8.4 per 100 patient years (py) and 5.1 in 100 py in 38 children. In adults, 195.4 SD episodes per 100 py were recorded, in children 169.7 per 100 py. In children 72.3% and in adults 34.8%, SD was performed according to the recommendations. Children scored higher on the CAHKAQ than adults (18.0 [1.0] vs 16.0 [4.0]; P = .001). In adults, there was a positive correlation of the frequency of SD and the incidence of AC (r = .235, P = .011) and CAHKAQ score (r = .233, P = .014), and between the incidence of AC and CAHKAQ (r = .193, P = .026).
CONCLUSIONS: The AC incidence and frequency of SD in children and adults with CAH are high. In contrast to the paediatric cohort, the majority of SD in adults was not in accordance with the DGE recommendations, underlining the need for structured and repeated education of patients with particular focus on transition.