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

J Pediatr. 1998 Feb;132(2):244-8. doi: 10.1016/s0022-3476(98)70439-1.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Exudates and Transudates / chemistry
  • Humans
  • Immunoblotting
  • Infant
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / genetics*
  • Mutation
  • Polymerase Chain Reaction
  • Proteolipids / genetics
  • Proteolipids / metabolism*
  • Pulmonary Surfactants / deficiency*
  • Pulmonary Surfactants / genetics
  • Pulmonary Surfactants / metabolism*
  • Respiratory Distress Syndrome, Newborn / complications
  • Respiratory Distress Syndrome, Newborn / metabolism*
  • Sequence Analysis, DNA
  • Time Factors
  • Trachea


  • Proteolipids
  • Pulmonary Surfactants