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Congenital lobar emphysema: a report of ten cases from one genealogy
Type of publication
Tezės kitoje duomenų bazėje / Theses in other database (T1c)
Author(s)
Kauno medicinos universitetas | |
Barkauskienė, Diana | Kauno medicinos universitetas |
Babušytė, Agnė | Kauno medicinos universiteto Biomedicininių tyrimų institutas |
Title
Congenital lobar emphysema: a report of ten cases from one genealogy
Date Issued
2006
Extent
p. 114, abstract no
Is part of
European journal of human genetics : European human genetics conference 2006 in conjunction with the European meeting on psychosocial aspects of genetics : Amsterdam, Netherlands, May 6-9, 2006 : final programme and abstracts / European society of human genetics. London : Nature Publishing Group, 2006, vol. 14, suppl. 1, May.
Field of Science
Keywords
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.
Is Referenced by
Type of document
type::text::conference output::conference proceedings::conference paper
ISSN (of the container)
1018-4813
eLABa
5117857
Coverage Spatial
Nyderlandai / Netherlands (NL)
Language
Anglų / English (en)
Bibliographic Details
0
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
EUROPEAN JOURNAL OF HUMAN GENETICS | 3.697 | 4.37 | 4.338 | 4.402 | 2 | 0.848 | 2006 | Q2 |
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
EUROPEAN JOURNAL OF HUMAN GENETICS | 3.697 | 4.37 | 4.338 | 4.402 | 2 | 0.848 | 2006 | Q2 |