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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.
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
January 2004,
The Journal of perinatal & neonatal nursing,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
October 2006,
The Journal of pediatrics,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
January 2006,
Annals of Saudi medicine,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
July 1993,
Pediatrics,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
April 1997,
Acta paediatrica (Oslo, Norway : 1992),
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
May 2020,
NeoReviews,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
January 1996,
Journal of perinatology : official journal of the California Perinatal Association,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
December 1995,
Pediatrics,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
June 1997,
Chest,
J M Klein, and
M W Thompson, and
J M Snyder, and
T N George, and
J A Whitsett, and
E F Bell, and
P B McCray, and
L M Nogee
July 2005,
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies,
