Transient surfactant protein B deficiency in a term infant with severe respiratory failure

Klein, J.M.; Thompson, M.W.; Snyder, J.M.; George, T.N.; Whitsett, J.A.; Bell, E.F.; McCray, P.B.; Nogee, L.M.

Journal of Pediatrics 132(2): 244-248


ISSN/ISBN: 0022-3476
PMID: 9506635
DOI: 10.1016/s0022-3476(98)70439-1
Accession: 009666895

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A 38-day-old male infant with persistent pulmonary hypertension and respiratory failure since birth was found to have a complete absence of surfactant protein B (SP-B) along with an aberrant form of SP-C in his tracheal aspirate fluid, findings consistent with the diagnosis of hereditary SP-B deficiency. Surprisingly, SP-B and SP-B messenger ribonucleic acid were present in lung biopsy tissue. However, DNA sequence analysis demonstrated a point mutation in exon 5 of one of the SP-B gene alleles. The infant's mother was found to be a carrier of this mutation. The infant's other SP-B allele did not differ from the published DNA sequence for the SP-B gene. We conclude that this patient had a transient deficiency of SP-B, in contrast to that of previously described infants with irreversible respiratory failure caused by hereditary SP-B deficiency. We recommend that infants with suspected SP-B deficiency have serial analysis of tracheal fluid samples for both SP-B and SP-C before lung biopsy, along with genetic analysis for the known SP-B mutations. We speculate that the new mutation found in one of this patient's SP-B genes was in part responsible for the transient deficiency of SP-B.