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Pediatr Res. 2016 Jan;79(1-1):34-41. doi: 10.1038/pr.2015.173. Epub 2015 Sep 16.

Surfactant proteins in pediatric interstitial lung disease.

Author information

1
Dr von Hauner Children´s Hospital, German Center for Lung Research (DZL), University of Munich, Munich, Germany.
2
Pediatric Pneumology, Charite, Berlin, Germany.
3
Hospital Clinico Universitario, Unidad Neumologia Infantil, Valencia, Spain.
4
Neonatology, University Children's Hospital, Mannheim, Germany.
5
Pediatric Cardiology, University Children's Hospital, Tuebingen, Germany.
6
Children´s Hospital, Johann Wolfgang Goethe-University, Frankfurt, Germany.
7
Pediatric Endocrinology, Charite, Berlin, Germany.
8
Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Regensburg, Germany.
9
Pediatric Pulmonology, Hannover Medical School, Hannover, Germany.
10
Children's Hospital and Interdisciplinary Center for Infectious Diseases, University of Tuebingen, Tuebingen, Germany.
11
Praxis für Humangenetik, CeGaT GmbH, Tübingen, Germany.

Abstract

BACKGROUND:

Children's interstitial lung diseases (chILD) comprise a broad spectrum of diseases. Besides the genetically defined surfactant dysfunction disorders, most entities pathologically involve the alveolar surfactant region, possibly affecting the surfactant proteins SP-B and SP-C. Therefore, our objective was to determine the value of quantitation of SP-B and SP-C levels in bronchoalveolar lavage fluid (BALF) for the diagnosis of chILD.

METHODS:

Levels of SP-B and SP-C in BALF from 302 children with chILD and in controls were quantified using western blotting. In a subset, single-nucleotide polymorphisms (SNPs) in the SFTPC promoter were genotyped by direct sequencing.

RESULTS:

While a lack of dimeric SP-B was found only in the sole subject with hereditary SP-B deficiency, low or absent SP-C was observed not only in surfactant dysfunction disorders but also in patients with other diffuse parenchymal lung diseases pathogenetically related to the alveolar surfactant region. Genetic analysis of the SFTPC promoter showed association of a single SNP with SP-C level.

CONCLUSION:

SP-B levels may be used for screening for SP-B deficiency, while low SP-C levels may point out diseases caused by mutations in TTF1, SFTPC, ABCA3, and likely in other genes involved in surfactant metabolism that remain to be identified. We conclude that measurement of levels of SP-B and SP-C was useful for the differential diagnosis of chILD, and for the precise molecular diagnosis, sequencing of the genes is necessary.

PMID:
26375475
DOI:
10.1038/pr.2015.173
[Indexed for MEDLINE]

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