European Journal of Pediatrics

, Volume 158, Issue 6, pp 513–518

Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants

Authors

  • M. Wallot
    • Universitäts-Klinikum Essen, Klinik für Kinder- und Jugendmedizin, Hufelandstrasse 55, D-45122 Essen, Germany, e-mail: Michael.Wallot@uni-essen.de, Tel.:+49 201-723 2251, Fax: +49 201-723 3793
  • C. Wagenvoort
    • Department of Pathology, Academisch Ziekenhuis Rotterdam, Rotterdam, The Netherlands
  • D. deMello
    • Department of Pathology, Saint Louis University Medical Center, Cardinal Glennon Children's Hospital, Saint Louis, USA
  • K.-M. Müller
    • Institut für Pathologie, Kliniken Bergmannsheil, Universitätsklinik Bochum, Bochum, Germany
  • J. Floros
    • Department of Cellular and Molecular Physiology H166, The Pennsylvania State University College of Medicine, Hershey, Pennsylvania, USA
  • C. Roll
    • Universitäts-Klinikum Essen, Klinik für Kinder- und Jugendmedizin, Hufelandstrasse 55, D-45122 Essen, Germany, e-mail: Michael.Wallot@uni-essen.de, Tel.:+49 201-723 2251, Fax: +49 201-723 3793
PNEUMOLOGY

DOI: 10.1007/s004310051132

Cite this article as:
Wallot, M., Wagenvoort, C., deMello, D. et al. Eur J Pediatr (1999) 158: 513. doi:10.1007/s004310051132

Abstract

Congenital alveolar proteinosis and misalignment of lung vessels are rare disorders. We report on five infants of consanguineous kindred. All infants were delivered at term after uneventful pregnancies. Shortly after birth they developed respiratory failure and severe persistent pulmonary hypertension. All died despite intensive care. Lung tissue of two infants was studied. Histological examination revealed combination of alveolar proteinosis and misalignment of lung vessels in one patient, alveolar proteinosis in the other. Immunostaining demonstrated surfactant protein B (SP-B) deficiency in both patients' lungs. In a further sibling, analysis of broncho-alveolar lavage fluid showed decreased surfactant protein. PCR and direct sequence analysis of the SP-B gene revealed three novel mutations. One of them, a single base deletion, shifts the reading frame at amino acid 122 and creates a premature termination of translation in exon 6. No mature SP-B protein is produced.

Conclusion Surfactant protein B deficiency caused by mutations of the respective gene and misalignment of lung vessels can concur. Both diseases may have a pathogenetic factor in common.

Key words Congenital alveolar proteinosisSurfactant protein-B deficiencyMisalignment of lung vesselsNewbornMutation

Copyright information

© Springer-Verlag Berlin Heidelberg 1999