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AJP Rep 2015; 05(01): e53-e59
DOI: 10.1055/s-0035-1545668
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

Stefan Kurath-Koller
1   Division of General Pediatrics, Paediatric Department, Medical University of Graz, Graz, Austria
,
Bernhard Resch
2   Division of Neonatology, Paediatric Department, Research Unit for Neonatal Infectious Diseases and Epidemiology, Medical University of Graz, Graz, Austria
,
Raimund Kraschl
3   Division of Neonatology, Pediatric Department, General Hospital of Klagenfurt, Klagenfurt, Austria
,
Christian Windpassinger
4   Department for human Genetics, Medical University of Graz, Graz, Austria
,
Ernst Eber
5   Division of Pulmonology, Paediatric Department, Medical University of Graz, Graz, Austria
› Author Affiliations
Further Information

Publication History

18 August 2014

23 December 2014

Publication Date:
02 March 2015 (online)

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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.

Keywords

surfactant - newborn infant - respiratory distress - surfactant protein B deficiency
 

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