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

1998; Elsevier BV; Volume: 132; Issue: 2 Linguagem: Inglês

10.1016/s0022-3476(98)70439-1

1097-6833

Jonathan M. Klein, Mark Thompson, Jeanne M. Snyder, T. Neville George, Jeffrey A. Whitsett, Edward F. Bell, Paul B. McCray, Lawrence M. Nogee,

Congenital Diaphragmatic Hernia Studies

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)