ID 111541
著者
Simeoni, Sara University of Verona
Puccetti, Antonio University of Genova
Chilosi, Marco University of Verona
Tinazzi, Elisa University of Verona
Prati, Daniele University Hospital, Verona
Corrocher, Roberto University of Verona
Lunardi, Claudio University of Verona
キーワード
neurofibromatosis type 1
pulmonary artery hypertension
bone morphogenetic protein receptor 2
資料タイプ
学術雑誌論文
抄録
We describe the case of a patient with neurofibromatosis type 1 (NF1) complicated by severe pulmonary aterial hypertension (PAH) ; only seven cases have been reported on this association so far, and PAH seems to be related to the vascular involvement of neurofibromatosis. The histology of our patient’s lung tissue showed thickening of arteries and veins by medial and/or intimal hypertrophy and fibrosis. In order to exclude a familiar PAH, the analysis of the bone morphogenetic protein receptor 2 gene was carried out, but no mutations were found.
On the basis of histological findings and of the results of genetic study we believe that PAH was a complication of NF1 in our patient and we suggest to screen patients with NF1 for the presence of PAH by means of trans-thoracic echocardiogram.
掲載誌名
The Journal of Medical Investigation
ISSN
13496867
13431420
cat書誌ID
AA11166929
AA12022913
出版者
Faculty of Medicine Tokushima University
54
3-4
開始ページ
354
終了ページ
358
並び順
354
発行日
2007-08
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版