Surfactant protein-B 121ins2 heterozygosity, reduced pulmonary function, and chronic obstructive pulmonary disease in smokers

Marie Bækvad-Hansen, Morten Dahl, Anne Tybjaerg-Hansen, Børge G Nordestgaard

32 Citationer (Scopus)

Abstract

Hereditary surfactant protein-B deficiency is an autosomal recessive disorder that causes fatal respiratory distress syndrome in newborns. Seventy percent of the cases of hereditary surfactant protein-B deficiency are caused by homozygosity for the 121ins2 mutation in the surfactant protein-B gene. Individuals heterozygous for this mutation have partial absence of surfactant protein-B and could be at risk of lung disease when exposed to additional risk factors for impaired surfactant function such as tobacco smoking.
OriginalsprogEngelsk
TidsskriftAmerican Journal of Respiratory and Critical Care Medicine
Vol/bind181
Udgave nummer1
Sider (fra-til)17-20
Antal sider4
DOI
StatusUdgivet - 1 jan. 2010

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