title: Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.
abstract: 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.
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
authors.forename: Whitney B
authors.initials: WB
authors.lastname: Eldridge
authors.affiliation: Division of Statistical Genomics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
authors.forename: Qunyuan
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
authors.forename: Albert
authors.initials: A
authors.lastname: Faro
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
authors.forename: Stuart C
authors.initials: SC
authors.lastname: Sweet
authors.affiliation: Department of Surgery, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
authors.forename: Pirooz
authors.initials: P
authors.lastname: Eghtesady
authors.affiliation: Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.
authors.forename: Aaron
authors.initials: A
authors.lastname: Hamvas
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO.
authors.forename: F Sessions
authors.initials: FS
authors.lastname: Cole
authors.affiliation: Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, MO. Electronic address: wambach_j@kids.wustl.edu.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Wambach
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D017563:Lung Diseases, Interstitial / Q000235:genetics / Q000601:surgery*; D016040:Lung Transplantation; D008297:Male; D011663:Pulmonary Surfactants; D012189:Retrospective Studies
chemical_list: D011663:Pulmonary Surfactants
keywords: ABCA3; NKX2.1; RDS; SFTPB; SFTPC; chILD; childhood interstitial lung disease; neonatal respiratory distress syndrome; pediatric lung transplantation; surfactant protein B; surfactant protein C