PMID: 9174234Apr 1, 1997Paper

Neonatal respiratory distress in near-term infants--consider surfactant protein B deficiency

Acta Paediatrica
E SleightR A Primhak

Abstract

Two infants presenting with respiratory distress in the first 24 h of life are described. Both patients underwent extensive investigation before the diagnosis of surfactant protein B-deficiency was reached. Both children died within 2 months of birth. Parental consanguinity was known to be a feature in the first case, who proved to have a previously unrecognized mutation of the surfactant protein B gene. In the second case, a history of parental consanguinity was not sought from the Caucasian family, but was later volunteered by the parents themselves. Case 2 proved to have the "common" surfactant protein B-deficient genotype. The key to diagnosis is having a high index of suspicion in any term or near-term newborn with severe respiratory distress; parental consanguinity must be excluded. Surfactant protein B-deficiency can be readily diagnosed from bronchoalveolar lavage specimens; a simple, inexpensive procedure which is well tolerated in newborns.

References

Feb 1, 1992·The Annals of Thoracic Surgery·V A StarnesN E Shumway
Jan 1, 1995·Biology of the Neonate·A HamvasF S Cole
Feb 11, 1993·The New England Journal of Medicine·L M NogeeH R Colten
Nov 1, 1995·Archives of Disease in Childhood. Fetal and Neonatal Edition·P A Chetcuti, R J Ball

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Citations

Feb 17, 2001·Pediatric Pulmonology·T Nicolai
Feb 26, 2004·Paediatric Respiratory Reviews·Neil N Finer
Feb 24, 2004·Annual Review of Physiology·Lawrence M Nogee
Aug 8, 2013·Therapeutic Delivery·Nashwa El-GendyPrajnaparamita Dhar
Jan 23, 2010·Biochimica Et Biophysica Acta·Edgar J AcostaA Wilhelm Neumann

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