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

M. Wallot, C. Wagenvoort, D. Demello, K. M. Müller, J. Floros, C. Roll

Research output: Contribution to journalArticlepeer-review

31 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)513-518
Number of pages6
JournalEuropean Journal of Pediatrics
Volume158
Issue number6
DOIs
StatePublished - 1999

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants'. Together they form a unique fingerprint.

Cite this