Unexplained neonatal respiratory distress due to congenital surfactant deficiency

Marco Somaschini; Lawrence M Nogee; Isabella Sassi; Olivier Danhaive; Silvia Presi; Renata Boldrini; Cristina Montrasio; Maurizio Ferrari; Susan E Wert; Paola Carrera

doi:10.1016/j.jpeds.2007.03.008

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

J Pediatr. 2007 Jun;150(6):649-53, 653.e1. doi: 10.1016/j.jpeds.2007.03.008.

Authors

Marco Somaschini¹, Lawrence M Nogee, Isabella Sassi, Olivier Danhaive, Silvia Presi, Renata Boldrini, Cristina Montrasio, Maurizio Ferrari, Susan E Wert, Paola Carrera

Affiliation

¹ Division of Neonatology, Bolognini Hospital, Seriate, Italy. marco.somaschini@bolognini.bg.it

PMID: 17517255
DOI: 10.1016/j.jpeds.2007.03.008

Abstract

Genetic abnormalities of pulmonary surfactant were identified by DNA sequence analysis in 14 (12 full-term, 2 preterm) of 17 newborn infants with fatal respiratory distress of unknown etiology. Deficiency of adenosine triphosphate-binding cassette protein, member A3 (n = 12) was a more frequent cause of this phenotype than deficiency of surfactant protein B (n = 2).

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Birth Weight
Female
Gestational Age
Humans
Immunohistochemistry
Infant, Newborn
Lung / diagnostic imaging
Male
Mutation, Missense
Phenotype
Pulmonary Surfactant-Associated Protein B / genetics*
Pulmonary Surfactant-Associated Protein B / metabolism
Pulmonary Surfactant-Associated Protein C / genetics*
Pulmonary Surfactants*
Respiratory Distress Syndrome, Newborn / genetics*
Sequence Analysis, DNA*
Ultrasonography

Substances

ABCA3 protein, human
ATP-Binding Cassette Transporters
Pulmonary Surfactant-Associated Protein B
Pulmonary Surfactant-Associated Protein C
Pulmonary Surfactants
SFTPC protein, human