A disorder of surfactant metabolism without identified genetic mutations

Silvia Montella, Timothy J. Vece, Claire Langston, Paola Carrera, Lawrence M. Nogee, Aaron Hamvas, Angelo Manna, Mariarosaria Cervasio, Francesca Santamaria

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Surfactant metabolism disorders may result in diffuse lung disease in children. Case presentation: We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in genes encoding surfactant proteins or transcription factors. Lung histology strongly suggested an abnormality of surfactant protein. A 7-month course of pulse intravenous high-dose methylprednisolone plus oral hydroxychloroquine and azithromycin led to gradual weaning from oxygen and oral steroids, and to improvement of cough and dyspnea. Over the follow-up period, hydroxychloroquine and azithromycin were not withdrawn as cough and dyspnea re-appeared at each attempt and disappeared at re-start. At 6 years of age chest HRCT still appeared unchanged, but clinical symptoms or signs were absent. Conclusions: In children suspected of inborn errors of pulmonary surfactant metabolism who do not have a recognized genetic mutation, lung biopsy with consistent histology may help physicians to address the definitive diagnosis.

Original languageEnglish
Article number93
JournalItalian Journal of Pediatrics
Volume41
Issue number1
DOIs
Publication statusPublished - Nov 25 2015

Keywords

  • Genetic testing
  • Interstitial lung disease
  • Surfactant Biology and Pathophysiology

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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