Unexplained Neonatal Respiratory Distress Due to Congenital Surfactant Deficiency

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

doi:10.1016/j.jpeds.2007.03.008

« Previous Next »The Journal of Pediatrics
Volume 150, Issue 6 , Pages 649-653.e1, June 2007

Unexplained Neonatal Respiratory Distress Due to Congenital Surfactant Deficiency

Marco Somaschini, MD
- Division of Neonatology, Bolognini Hospital, Seriate, Italy
- Reprint requests: Dr Marco Somaschini, Divisione di Neonatologia e Patologia Neonatale, Ospedale Bolognini, Via Paderno 21, 24068 Seriate, Italy.
Lawrence M. Nogee, MD
- Department of Pediatrics, Division of Neonatology, Johns Hopkins University School of Medicine, Baltimore, MD
Isabella Sassi, MD
- Pathology Unit, San Raffaele Scientific Institute, Milan, Italy
Olivier Danhaive, MD
- Division of Neonatology and Laboratory of Neonatal Biology, Bambino Gesù Children’s Hospital, Rome, Italy
Silvia Presi, PhD
- Clinical Molecular Biology Laboratory, Diagnostics and Research San Raffaele-Laboraf, Milan, Italy
Renata Boldrini, MD
- Electron Microscopy Unit, Division of Pathology, Bambino Gesù Children’s Hospital, Rome, Italy
Cristina Montrasio, PhD
- San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
Maurizio Ferrari, MD
- Clinical Molecular Biology Laboratory, Diagnostics and Research San Raffaele-Laboraf, Milan, Italy
- San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy
- Vita e Salute University, Clinical Pathology, Milan, Italy
Susan E. Wert, PhD
- Department of Pediatrics, Division of Pulmonary Biology, Cincinnati Children’s Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH.
Paola Carrera, PhD
- Clinical Molecular Biology Laboratory, Diagnostics and Research San Raffaele-Laboraf, Milan, Italy
- San Raffaele Scientific Institute, Unit of Genomics for Diagnosis of Genetic Diseases, Milan, Italy

Received 19 September 2006; received in revised form 18 January 2007; accepted 2 March 2007.

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).

Abbreviations: ABCA3, Adenosine triphosphate-binding cassette protein, member A3, PAS, Periodic acid-Schiff reagent, PCR, Polymerase chain reaction, SP-B, Surfactant protein B, SP-C, Surfactant protein C