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

Jonathan M Klein; Mark W Thompson; Jeanne M Snyder; Thomas N George; Jeffrey A Whitsett; Edward F Bell; Paul B McCray; Lawrence M Nogee

doi:10.1016/S0022-3476(98)70439-1

Back

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

Journal article

Peer reviewed

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

Jonathan M Klein, Mark W Thompson, Jeanne M Snyder, Thomas N George, Jeffrey A Whitsett, Edward F Bell, Paul B McCray and Lawrence M Nogee

The Journal of pediatrics, Vol.132(2), pp.244-248

1998

DOI: 10.1016/S0022-3476(98)70439-1

PMID: 9506635

View Online

Abstract

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 Pediatr 1998;132:244-8)

mRNA

proSP-C

PCR

Details

Title: Subtitle: Transient surfactant protein B deficiency in a term infant with severe respiratory failure
Creators: Jonathan M Klein
Mark W Thompson
Jeanne M Snyder
Thomas N George
Jeffrey A Whitsett
Edward F Bell
Paul B McCray
Lawrence M Nogee
Resource Type: Journal article
Publication Details: The Journal of pediatrics, Vol.132(2), pp.244-248
Publisher: Mosby, Inc
DOI: 10.1016/S0022-3476(98)70439-1
PMID: 9506635
ISSN: 0022-3476
eISSN: 1097-6833
Language: English
Date published: 1998
Academic Unit: Microbiology and Immunology; Pulmonary Medicine; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Neonatology; Internal Medicine
Record Identifier: 9984093331202771

Metrics

5 Record Views

53 Times Cited - Web of Science