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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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Clinical Biological and Genetic Heterogeneity of the Inborn Errors of Pulmonary Surfactant Metabolism

Mohammed Tredano / Jacques de Blic / Matthias Griese / Jean-Christophe Fournet / Jacques Elion / Michel Bahuau

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 39, Issue 2, Pages 90–108, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2001.018, June 2005

Publication History

Published Online:
2005-06-01

Abstract

Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer (consisting mainly of phospholipids), and of an aqueous subphase. From discrete surfactant sub-fractions one can isolate strongly hydrophobic surfactant proteins B (SP-B) and C (SP-C) as well as collectins SP-A and SP-D, which were shown to have specific structural, metabolic, or immune properties. Inborn or acquired abnormalities of the s u rfactant, qualitative or quantitative in nature, account for a number of human diseases. Beside hyaline membrane disease of the preterm neonate, a cluster of hereditary or acquired lung diseases has been characterized by periodic acid-Schiff-positive material filling the alveoli. From this heterogeneous nosologic group, at least two discrete entities presently emerge. The first is the SP-B deficiency, in which an essentially proteinaceous material is stored within the alveoli, and which represents an autosomal recessive Mendelian entity linked to the SFTPB gene (MIM 1786640). The disease usually generally entails neonatal respiratory distress with rapid fatal outcome, although partial or transient deficiencies have also been observed. The second is alveolar proteinosis, characterized by the storage of a mixed protein and lipid material, which constitutes a relatively heterogeneous clinical and biological syndrome, especially with regard to age at onset (from the neonate through to adulthood) as well as the severity of associated signs. Murine models, with a targeted mutation of the gene encoding granulocyte macrophage colony-stimulating factor (GM-CSF) (Csfgm) or the β subunit of its receptor (Il3rb1) support the hypothesis of an abnormality of surfactant turnover in which the alveolar macrophage is a key player. Apart from SP-B deficiency, in which a near-consensus diagnostic chart can be designed, the ascertainment of other abnormalities of surfactant metabolism is not straightforward. The disentdisentanglement of this disease cluster is however essential to propose specific therapeutic procedures: repeated broncho-alveolar lavages, GM-CSF replacement, bone marrow grafting or lung transplantation.

Citing Articles

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[1]
Thierry Lacaze-Masmonteil
Seminars in Neonatology, 2003, Volume 8, Number 6, Page 433
[2]
Geoffrey Kurland, Robin R. Deterding, James S. Hagood, Lisa R. Young, Alan S. Brody, Robert G. Castile, Sharon Dell, Leland L. Fan, Aaron Hamvas, Bettina C. Hilman, Claire Langston, Lawrence M. Nogee, and Gregory J. Redding
American Journal of Respiratory and Critical Care Medicine, 2013, Volume 188, Number 3, Page 376
[3]
Th. Lacaze-Masmonteil
Archives de Pédiatrie, 2008, Volume 15, Page S42
[4]
Susan E. Wert, Jeffrey A. Whitsett, and Lawrence M. Nogee
Pediatric and Developmental Pathology, 2009, Volume 12, Number 4, Page 253
[5]
Mohammed Tredano, David N. Cooper, Manfred Stuhrmann, John Christodoulou, Nadia A. Chuzhanova, Françoise Roudot-Thoraval, Pierre-Yves Boëlle, Jacques Elion, Marc Jeanpierre, Josué Feingold, Rémy Couderc, and Michel Bahuau
American Journal of Medical Genetics Part A, 2006, Volume 140A, Number 1, Page 62
[6]
Kazutoshi CHO, Koh NAKATA, Tadashi ARIGA, Satoru OKAJIMA, Tadashi MATSUDA, Keiko UEDA, Itsuko FURUTA, Kunihiko KOBAYASHI, and Hisanori MINAKAMI
Respirology, 2006, Volume 11, Number s1, Page S74
[7]
Mohammed Tredano, Matthias Griese, Jacques de Blic, Tifenn Lorant, Claude Houdayer, Silja Schumacher, Fran�ois Cartault, Fr�d�rique Capron, Liliane Boccon-Gibod, Thierry Lacaze-Masmonteil, Sylvain Renolleau, Bertrand Delaisi, Jacques Elion, R�my Couderc, and Michel Bahuau
American Journal of Medical Genetics, 2003, Volume 119A, Number 3, Page 324

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