Pediatric Department A and Immunology Service, Edmond and Lily Safra Children's Hospital, Jeffrey Modell Foundation Center, Tel Hashomer, Israel; Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Ramat Gan, Israel.
J Pediatr. 2021 Nov;238:215-220.e5. doi: 10.1016/j.jpeds.2021.07.020. Epub 2021 Jul 17.
To evaluate various clinical aspects, specifically regarding immune status, in a large cohort of patients with DiGeorge syndrome.
Data were collected for 98 patients with DiGeorge syndrome treated at a tertiary medical center. This included general information, laboratory results, and clinical features.
The median age at diagnosis was 2.0 years (range, 0.0-36.5 years). The most common symptoms that led to diagnosis were congenital heart defect, speech delay, palate anomalies, and developmental delay. Common clinical features included recurrent infections (76 patients), congenital heart diseases (61 patients), and otorhinolaryngology disorders (61 patients). Twenty patients had anemia; the incidence was relatively high among patients aged 6-59 months. Thrombocytopenia was present in 20 patients. Recurrent chest infections were significantly higher in patients with T cell and T cell subset deficiencies. Decreased T cell receptor excision circles were more common with increasing age (P < .001). Of the 27 patients hospitalized due to infection, pneumonia was a leading cause in 13.
Awareness of DiGeorge syndrome's typical and uncommon characteristics is important to improve diagnosis, treatment, surveillance, and follow-up.
评估大样本 DiGeorge 综合征患者的各种临床特征，特别是免疫状态。
收集了在一家三级医疗中心接受治疗的 98 例 DiGeorge 综合征患者的数据。这些数据包括一般信息、实验室结果和临床特征。
诊断时的中位年龄为 2.0 岁（范围，0.0-36.5 岁）。导致诊断的最常见症状是先天性心脏病、言语延迟、腭裂和发育迟缓。常见的临床特征包括反复感染（76 例）、先天性心脏病（61 例）和耳鼻喉疾病（61 例）。20 例患者有贫血，6-59 月龄患者的发病率相对较高。20 例患者有血小板减少症。T 细胞和 T 细胞亚群缺乏的患者反复出现胸部感染的情况明显更高。随着年龄的增长，T 细胞受体切除环减少更为常见（P<.001）。在因感染住院的 27 例患者中，肺炎是 13 例患者的主要病因。
了解 DiGeorge 综合征的典型和不典型特征对于改善诊断、治疗、监测和随访非常重要。
