Pediatric Scientist Development Program, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa; Department of Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa.
Pediatric Residency Program, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pa.
J Allergy Clin Immunol Pract. 2022 Jan;10(1):286-296.e3. doi: 10.1016/j.jaip.2021.10.033. Epub 2021 Oct 27.
Primary immunodeficiency disorders (PIDDs) describe a myriad of diseases caused by inherited defects within the immune system. As the number of identified genetic defects associated with PIDDs increases, understanding the incidence and outcomes of PIDD patients becomes imperative.
To characterize the frequency of new diagnoses, patterns of health care utilization, rates of hematopoietic stem cell transplantation (HSCT), and mortality in pediatric patients with PIDDs.
A retrospective cohort analysis of the Pediatric Health Information System database from 2004 to 2018 for pediatric inpatients with an International Classification of Diseases, Ninth and 10th Revisions (ICD-9/ICD-10). code associated with PIDD.
A total of 17,234 patients with a PIDD were hospitalized from 2004 to 2018. There were 2.8 new PIDD diagnoses and 6.3 PIDD hospitalizations per 1,000 discharges; these metrics were unchanged during the study period. The number of new diagnoses for B-cell and antibody defects significantly increased over time. The number of new PIDD diagnoses significantly increased in adolescents or adults and decreased in infants. T-cell disorders had the highest number of intensive care unit admissions. There were 747 PIDD patients who underwent HSCT; complications of HSCT significantly decreased over time. Mortality rates significantly decreased in all PIDD patients and in patients receiving HSCT.
The total hospitalizations and incidence of PIDDs within the hospitalized pediatric population were unchanged. There were significant changes in the class of PIDD diagnosed, the age at diagnosis, and health care utilization metrics. Mortality significantly decreased over time within the PIDD cohort.
原发性免疫缺陷病（PIDDs）描述了一系列由免疫系统遗传缺陷引起的疾病。随着与 PIDDs 相关的遗传缺陷数量的增加，了解 PIDD 患者的发病率和结局变得至关重要。
描述儿科 PIDDs 患者新诊断的频率、医疗保健利用模式、造血干细胞移植（HSCT）的比例和死亡率。
对 2004 年至 2018 年期间儿科住院患者的儿科健康信息系统数据库进行回顾性队列分析，这些患者的国际疾病分类，第九和第十修订版（ICD-9/ICD-10）有与 PIDD 相关的代码。
2004 年至 2018 年期间，共有 17234 例 PIDDs 患者住院。每 1000 例出院患者中有 2.8 例新诊断的 PIDD 和 6.3 例 PIDD 住院；在研究期间这些指标没有变化。B 细胞和抗体缺陷的新诊断数量随着时间的推移显著增加。新诊断的 PIDD 数量在青少年或成人中显著增加，在婴儿中减少。T 细胞疾病的重症监护病房入院人数最多。有 747 例 PIDD 患者接受了 HSCT；HSCT 的并发症随着时间的推移显著减少。所有 PIDD 患者和接受 HSCT 的患者的死亡率均显著下降。
住院儿科人群中 PIDDs 的总住院率和发病率保持不变。诊断的 PIDD 类型、诊断时的年龄和医疗保健利用指标发生了显著变化。PIDD 队列的死亡率随着时间的推移显著下降。
