Eldridge Whitney B, Zhang Qunyuan, Faro Albert, Sweet Stuart C, Eghtesady Pirooz, Hamvas Aaron, Cole F Sessions, Wambach Jennifer A
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
Division of Statistical Genomics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
J Pediatr. 2017 May;184:157-164.e2. doi: 10.1016/j.jpeds.2017.01.017. Epub 2017 Feb 16.
To compare outcomes of infants and children who underwent lung transplantation for genetic disorders of surfactant metabolism (SFTPB, SFTPC, ABCA3, and NKX2-1) over 2 epochs (1993-2003 and 2004-2015) at St Louis Children's Hospital.
We retrospectively reviewed clinical characteristics, mortality, and short- and long-term morbidities of infants (transplanted at <1 year; n = 28) and children (transplanted >1 year; n = 16) and compared outcomes by age at transplantation (infants vs children) and by epoch of transplantation.
Infants underwent transplantation more frequently for surfactant protein-B deficiency, whereas children underwent transplantation more frequently for SFTPC mutations. Both infants and children underwent transplantation for ABCA3 deficiency. Compared with children, infants experienced shorter times from listing to transplantation (P = .014), were more likely to be mechanically ventilated at the time of transplantation (P < .0001), were less likely to develop bronchiolitis obliterans post-transplantation (P = .021), and were more likely to have speech and motor delays (P ≤ .0001). Despite advances in genetic diagnosis, immunosuppressive therapies, and supportive respiratory and nutritional therapies, mortality did not differ between infants and children (P = .076) or between epochs. Kaplan-Meier analyses demonstrated that children transplanted in epoch 1 (1993-2003) were more likely to develop systemic hypertension (P = .049) and less likely to develop post-transplantation lymphoproliferative disorder compared with children transplanted in epoch 2 (2004-2015) (P = .051).
Post-lung transplantation morbidities and mortality remain substantial for infants and children with genetic disorders of surfactant metabolism.
比较在圣路易斯儿童医院两个时期（1993 - 2003年和2004 - 2015年）因表面活性物质代谢遗传疾病（SFTPB、SFTPC、ABCA3和NKX2 - 1）接受肺移植的婴幼儿和儿童的治疗结果。
我们回顾性分析了婴幼儿（<1岁接受移植；n = 28）和儿童（>1岁接受移植；n = 16）的临床特征、死亡率以及短期和长期发病率，并按移植时的年龄（婴幼儿与儿童）和移植时期比较了治疗结果。
婴幼儿因表面活性蛋白B缺乏接受移植更为频繁，而儿童因SFTPC突变接受移植更为频繁。婴幼儿和儿童均因ABCA3缺乏接受移植。与儿童相比，婴幼儿从列入移植名单到接受移植的时间更短（P = 0.014），移植时接受机械通气的可能性更大（P < 0.0001），移植后发生闭塞性细支气管炎的可能性更小（P = 0.021），出现言语和运动发育迟缓的可能性更大（P≤0.0001）。尽管在基因诊断、免疫抑制治疗以及支持性呼吸和营养治疗方面取得了进展，但婴幼儿和儿童之间的死亡率（P = 0.076）以及不同时期之间的死亡率并无差异。Kaplan - Meier分析表明，与在第2时期（2004 - 2015年）接受移植的儿童相比，在第1时期（1993 - 2003年）接受移植的儿童发生系统性高血压的可能性更大（P = 0.049），发生移植后淋巴细胞增生性疾病的可能性更小（P = 0.051）。
对于患有表面活性物质代谢遗传疾病的婴幼儿和儿童，肺移植后的发病率和死亡率仍然很高。
