title: Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.
abstract: Objective Surfactant protein B (SP-B) deficiency is a rare autosomal recessive disorder that is usually rapidly fatal. The c.397delCinsGAA mutation (121ins2) in exon 4 is found in more than two-thirds of patients. Design We report on a fatal case of SP-B deficiency caused by a homozygous C248X mutation in exon 7 of the SP-B gene. In addition, we provide an update of the current literature. The EMBASE, MEDLINE, and CINAHL databases were systematically searched to identify all papers published in the English and German literature on SP-B deficiency between 1989 and 2013. Results SP-B deficiency is characterized by progressive hypoxemic respiratory failure generally in full-term infants. They present with symptoms of respiratory distress and hypoxemia; chest X-ray resembles hyaline membrane disease. Prenatal diagnosis is possible from amniotic fluid or chorionic villi sampling. Conclusion Thirty-four mutations have been published in the literature. Treatment options are scarce. Gene therapy is hoped to be an option in the future.
authors.affiliation: Division of General Pediatrics, Paediatric Department, Medical University of Graz, Graz, Austria.
authors.forename: Stefan
authors.initials: S
authors.lastname: Kurath-Koller
authors.affiliation: Division of Neonatology, Paediatric Department, Research Unit for Neonatal Infectious Diseases and Epidemiology, Medical University of Graz, Graz, Austria.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Resch
authors.affiliation: Division of Neonatology, Pediatric Department, General Hospital of Klagenfurt, Klagenfurt, Austria.
authors.forename: Raimund
authors.initials: R
authors.lastname: Kraschl
authors.affiliation: Department for human Genetics, Medical University of Graz, Graz, Austria.
authors.forename: Christian
authors.initials: C
authors.lastname: Windpassinger
authors.affiliation: Division of Pulmonology, Paediatric Department, Medical University of Graz, Graz, Austria.
authors.forename: Ernst
authors.initials: E
authors.lastname: Eber
keywords: newborn infant; respiratory distress; surfactant; surfactant protein B deficiency