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

• Published in: The Journal of pediatrics Vol. 132; no. 2; pp. 244 - 248
• Main Authors: Klein, Jonathan M., Thompson, Mark W., Snyder, Jeanne M., George, Thomas N., Whitsett, Jeffrey A., Bell, Edward F., McCray, Paul B., Nogee, Lawrence M.
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.02.1998; Elsevier
• Subjects: Biological and medical sciences; Exudates and Transudates - chemistry; Humans; Immunoblotting; Infant; Infant, Newborn; Male; Medical sciences; Metabolism, Inborn Errors - complications; Metabolism, Inborn Errors - genetics; Mutation; Pneumology; 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; Respiratory system : syndromes and miscellaneous diseases; Sequence Analysis, DNA; Time Factors; Trachea; NO; mRNA; proSP-C; SP; PCR; Human; Nucleotide sequence; Respiratory disease; Deficiency; Infant; Protein; Transitory; Case study; Gene; Respiratory failure; Pulmonary surfactant; Etiology; Term pregnancy; Molecular biology; Severe
• ISSN: 0022-3476; 1097-6833
• 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. (J Pediatr 1998;132:244-8)