Congenital lobar emphysema: a report of ten cases from one genealogy

Abstract

Congenital lobar emphysema (CLE) [MIM130710] is an autosomal dominant lung disease with hyperinflated lobe of the lung, compressed normal lung tissue, bronchial cartilage hypoplasia . Here we report a family with 10 cases of CLE. The first patient was a 40 years old man, who had symptoms of chronic obstructive lung disease, lobar emphysema, history of two events of sporadic pneumothorax . KT showed left upper lobe emphysema with compression of other part of the lung . Thoracotomy and left upper lobectomy were performed for decompression of healthy part of the lung . Biochemical analysis for quantitative alpha-1 antytripsin level in serum was at lower range of normal limits . Genealogy showed 9 more cases of CLE . Affected members were almost in all generations . In all cases disease manifested after puberty . Both of the proband’s children (son and daughter) also had lobar emphysema . Other affected members were a cousin, two sisters, a nephew, two nieces and grandmother . It is interesting that proband’s father (son of affected grandmother) was healthy . We think, that incomplete penetrance is the reason why patients’ father is healthy . We represent the most numerous family with late onset of CLE in Lithuania.