Veramendi-Espinoza Liz E, Zafra-Tanaka Jessica H, Pérez-Casquino Gabriela A, Córdova-Calderón Wilmer O
Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana San Fernando, Lima, Peru.
Centro de Referencia Nacional de Asma Alergia Inmunología (CERNAAI), Instituto Nacional de Salud del Niño, Breña, Peru.
J Clin Immunol. 2017 May;37(4):383-387. doi: 10.1007/s10875-017-0398-2. Epub 2017 May 8.
The aim of the study was to assess the diagnostic delay in pediatric patients with primary immunodeficiencies (PID) at a tertiary care hospital in Peru.
A descriptive study was carried out in which patients from a third-level referral center in Peru were included. Those without a specific diagnosis of PID were excluded. Data was collected by reviewing the medical records and interviewing patients' family members.
A total of 45 patients with a mean of 7.4 years (SD = 4.3) were studied. The most frequent diagnosis was predominant antibody defects (35.5%), and the diagnostic delay had a median of 12.17 months (IQR 5.1-30.3).
The most frequently diagnosed group of PID was predominant antibody deficiency. The overall median diagnostic delays for PID and predominant antibody deficiency were 12 and 14 months, respectively. Even though early detection of PIDs is crucial for effective treatment, current available laboratory tests required for PID diagnosis are both complex and expensive. Early detection and management of these pathologies cannot be achieved without training non-specialist health professionals in the diagnosis of PID, as well as integrating multidisciplinary and multi-center cooperation at both national and international levels.
本研究旨在评估秘鲁一家三级医疗中心儿科原发性免疫缺陷（PID）患者的诊断延迟情况。
开展了一项描述性研究，纳入了秘鲁一家三级转诊中心的患者。排除未明确诊断为PID的患者。通过查阅病历和访谈患者家属收集数据。
共研究了45例患者，平均年龄7.4岁（标准差=4.3）。最常见的诊断是主要抗体缺陷（35.5%），诊断延迟的中位数为12.17个月（四分位间距5.1 - 30.3）。
PID最常诊断的类型是主要抗体缺陷。PID和主要抗体缺陷的总体诊断延迟中位数分别为12个月和14个月。尽管PID的早期检测对有效治疗至关重要，但目前PID诊断所需的实验室检测既复杂又昂贵。如果不在国家和国际层面培训非专科卫生专业人员进行PID诊断，以及整合多学科和多中心合作，就无法实现这些疾病的早期检测和管理。
