Evaluation and management of inherited disorders of surfactant metabolism

Aaron Hamvas*

*Corresponding author for this work

Research output: Contribution to journalReview article

24 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2943-2947
Number of pages5
JournalChinese medical journal
Volume123
Issue number20
DOIs
StatePublished - Oct 20 2010

Keywords

  • Genetics
  • Lung transplantation
  • Newborn
  • Respiratory distress syndrome

ASJC Scopus subject areas

  • Medicine(all)

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