Document Detail

Transient surfactant protein B deficiency in a term infant with severe respiratory failure.
MedLine Citation:
PMID:  9506635     Owner:  NLM     Status:  MEDLINE    
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.
J M Klein; M W Thompson; J M Snyder; T N George; J A Whitsett; E F Bell; P B McCray; L M Nogee
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  132     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1998 Feb 
Date Detail:
Created Date:  1998-04-01     Completed Date:  1998-04-01     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  244-8     Citation Subset:  AIM; IM    
Department of Pediatrics, University of Iowa, Iowa City 52242-1083, USA.
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MeSH Terms
Exudates and Transudates / chemistry
Infant, Newborn
Metabolism, Inborn Errors / complications,  genetics*
Polymerase Chain Reaction
Proteolipids / genetics,  metabolism*
Pulmonary Surfactants / deficiency*,  genetics,  metabolism*
Respiratory Distress Syndrome, Newborn / complications,  metabolism*
Sequence Analysis, DNA
Time Factors
Grant Support
Reg. No./Substance:
0/Proteolipids; 0/Pulmonary Surfactants
Comment In:
J Pediatr. 1998 Feb;132(2):198-200   [PMID:  9506626 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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