Surfactant protein deficiency in familial interstitial lung disease

Raouf S. Amin, Susan E. Wert, Robert P. Baughman, Joseph F. Tomashefski, Lawrence Nogee, Alan S. Brody, William M. Hull, Jeffrey A. Whitsett

Research output: Contribution to journalArticle

Abstract

Objective: To determine the contribution of surfactant protein abnormalities to the development of chronic lung injury in a familial form of interstitial lung disease. Study design: An 11-year-old girl, her sister, and their mother who were diagnosed with chronic interstitial lung disease underwent laboratory investigation of surfactant protein expression in bronchoalveolar lavage fluid and lung biopsy specimens. Nineteen patients with idiopathic pulmonary fibrosis and 9 patients who were investigated for pulmonary malignancy but who did not have interstitial lung disease served as control subjects. Results: The 3 family members were found to have absent surfactant protein C (SP-C) and decreased levels of SP-A and SP-B in bronchoalveolar lavage fluid (BALF). Immunostaining for pulmonary surfactant proteins in lung biopsy specimens obtained from both children demonstrated a marked decrease of pro-SP-C in the alveolar epithelial cells but strong staining for pro-SP-B, SP-B, SP-A, and SP-D. No deviations from published surfactant protein B or C coding sequences were identified by DNA sequence analysis. All control subjects had a detectable level of SP-C in the BALF. Conclusion: The apparent absence of SP-C and a decrease in the levels of SP-A and SP-B are associated with familial interstitial lung disease.

Original languageEnglish (US)
Pages (from-to)85-92
Number of pages8
JournalJournal of Pediatrics
Volume139
Issue number1
DOIs
StatePublished - 2001

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Protein Deficiency
Interstitial Lung Diseases
Surface-Active Agents
Protein C
Bronchoalveolar Lavage Fluid
Lung
Pulmonary Surfactant-Associated Proteins
Pulmonary Surfactant-Associated Protein D
Alveolar Epithelial Cells
Biopsy
Idiopathic Pulmonary Fibrosis
Lung Injury
DNA Sequence Analysis
Siblings
Proteins
Mothers
Staining and Labeling

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Amin, R. S., Wert, S. E., Baughman, R. P., Tomashefski, J. F., Nogee, L., Brody, A. S., ... Whitsett, J. A. (2001). Surfactant protein deficiency in familial interstitial lung disease. Journal of Pediatrics, 139(1), 85-92. https://doi.org/10.1067/mpd.2001.114545

Surfactant protein deficiency in familial interstitial lung disease. / Amin, Raouf S.; Wert, Susan E.; Baughman, Robert P.; Tomashefski, Joseph F.; Nogee, Lawrence; Brody, Alan S.; Hull, William M.; Whitsett, Jeffrey A.

In: Journal of Pediatrics, Vol. 139, No. 1, 2001, p. 85-92.

Research output: Contribution to journalArticle

Amin, RS, Wert, SE, Baughman, RP, Tomashefski, JF, Nogee, L, Brody, AS, Hull, WM & Whitsett, JA 2001, 'Surfactant protein deficiency in familial interstitial lung disease', Journal of Pediatrics, vol. 139, no. 1, pp. 85-92. https://doi.org/10.1067/mpd.2001.114545
Amin, Raouf S. ; Wert, Susan E. ; Baughman, Robert P. ; Tomashefski, Joseph F. ; Nogee, Lawrence ; Brody, Alan S. ; Hull, William M. ; Whitsett, Jeffrey A. / Surfactant protein deficiency in familial interstitial lung disease. In: Journal of Pediatrics. 2001 ; Vol. 139, No. 1. pp. 85-92.
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AU - Brody, Alan S.

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