中华医学杂志（英文版）2010，Vol.123Issue(20)：2943-2947,5.DOI:10.3760/cma.j.issn.0366-6999.2010.20.035
Evaluation and management of inherited disorders of surfactant metabolism
Evaluation and management of inherited disorders of surfactant metabolism
摘要
Abstract
Objective To review the pathophysiology, evaluation, management, and outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C(SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1).Data sources Review of the literature, previous work from the author's and collaborators' laboratories, St. Louis Children's Hospital Lung Transplant Database.Study selection Key articles in the field, author's work.Results Inherited disorders of surfactant metabolism present as acute, severe respiratory dysfunction in the neonatal period (SFTPB, ABCA3, NKX2.1) or as chronic respiratory insufficiency in later infancy and childhood which is of variable onset, severity, and course (SFTPC, ABCA3, NKX2.1). Diagnosis is established with sequencing the relevant genes; lung biopsy with electron microscopy is a useful adjunct. For surfactant protein-B and ABCA3 deficiency presenting with acute neonatal disease, treatment options are limited to lung transplantation or compassionate care. For the more chronic presentations of surfactant protein-C, ABCA3, and NKX2.1 associated disease, the natural history is variable and therefore individualized, supportive care is appropriate,Conclusions Inherited disorders of surfactant metabolism are rare, but informative diseases that provide unique opportunities for understanding mechanisms of respiratory disease in newborns and children.关键词
respiratory distress syndrome/newborn/genetics/lung transplantationKey words
respiratory distress syndrome/newborn/genetics/lung transplantation引用本文复制引用
Aaron Hamvas..Evaluation and management of inherited disorders of surfactant metabolism[J].中华医学杂志（英文版）,2010,123(20):2943-2947,5.基金项目
This work was supported by the grants from National Institutes of Health (No. HL-65157 and No. HL-84727). （No. HL-65157 and No. HL-84727）
