Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Kurath-Koller, S; Resch, B; Kraschl, R; Windpassinger, C; Eber, E.
Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation-A Case Report and Review of the Literature.
AJP Rep. 2015; 5(1):e53-e59
Doi: 10.1055/s-0035-1545668
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- Führende Autor*innen der Med Uni Graz
- Kurath-Koller Stefan
- Co-Autor*innen der Med Uni Graz
- Eber Ernst
- Resch Bernhard
- Windpassinger Christian
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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.
- Find related publications in this database (Keywords)
- surfactant
- newborn infant
- respiratory distress
- surfactant protein B deficiency