de Pagter Anne P J, Bredius Robbert G M, Kuijpers Taco W, Tramper Jelco, van der Burg Mirjam, van Montfrans Joris, Driessen Gertjan J
Department of Pediatrics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands,
Eur J Pediatr. 2015 Sep;174(9):1183-8. doi: 10.1007/s00431-015-2518-4. Epub 2015 Apr 1.
Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998-2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0-1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated.
Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients. "WHAT IS KNOWN": • SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time. • Newborn screening for SCID enables early diagnosis in the asymptomatic phase. "WHAT IS NEW": • Nine out of 43 SCID patients in the Netherlands died due to severe infectious complications before curative treatment could be initiated. • Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands.
重症联合免疫缺陷（SCID）是一种致命的原发性免疫缺陷病，通常在生命的最初几个月出现（机会性）感染、腹泻和发育不良。造血干细胞移植（HSCT）和基因治疗（GT）是治愈性的治疗选择。本研究的目的是评估过去15年荷兰SCID患儿的发病率、死亡率以及诊断和治疗延迟情况。这些数据可能有助于判断SCID是否应被纳入我国的新生儿筛查项目。在1998 - 2013年期间，荷兰共诊断出43例SCID患者，其中11例为非典型SCID（发病时间超过1岁）。首次症状出现至诊断的中位间隔时间为2个月（范围0 - 1173个月）。总死亡率为42%。共有32例患者接受了HSCT治疗，其中8例死亡。9例患者在能够开始治愈性治疗之前因严重感染并发症死亡。
由于SCID患者在能够开始HSCT治疗之前死亡率较高，只有全国新生儿筛查项目以及抢先进行HSCT或GT才能提高这些患者的生存率。“已知信息”：• 如果不能及时进行治愈性造血干细胞移植，SCID是一种致命疾病。• 对SCID进行新生儿筛查可在无症状期实现早期诊断。“新发现”：• 荷兰43例SCID患者中有9例在能够开始治愈性治疗之前因严重感染并发症死亡。• 在荷兰，只有新生儿筛查和抢先进行的治愈性治疗才能提高SCID患儿的生存率。
