Sarcoidosis Vasc Dif
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Sarcoidosis Vasc Dif · Dec 2005
Review Comparative StudyLung transplantation for rare pulmonary diseases.
Emphysema, idiopathic pulmonary fibrosis and cystic fibrosis are the major indications for lung transplantation. This article will present an overview of lung transplantation in the context of rare pulmonary diseases, in particular pulmonary sarcoidosis, lymphangioleiomyomatosis (LAM), and pulmonary Langerhans Cell Histiocytosis X (LCH). It will present criteria used in deciding when a patient should be referred and will discuss medical management in the context of lung transplantation.
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Sarcoidosis Vasc Dif · Dec 2005
Review Comparative StudyClinical and molecular insights into lymphangioleiomyomatosis.
Lymphangioleiomyomatosis (LAM) is a rare disease of women that is characterized by a proliferation of abnormal smooth muscle-like cells (LAM cells), which leads to cystic lung lesions, lymphatic abnormalities, and abdominal tumors (e.g., angiomyolipomas). LAM occurs sporadically or in association with tuberous sclerosis complex, an autosomal dominant syndrome characterized by hamartoma-like tumor growths. The tumor suppressor genes TSC1 and TSC2 have been implicated in the etiology of LAM, as mutations and loss of heterozygosity (LOH) in TSC2 have been detected in LAM cells. ⋯ In the proper clinical setting, LAM may be diagnosed by a thoraco-abdominal CT scan. Tissue biopsy with special stains (HMB-45) should be reserved for cases with atypical presentations. There is no effective treatment for LAM, but on-going therapeutic trials with rapamycin appear promising.
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Sarcoidosis Vasc Dif · Dec 2005
ReviewIdiopathic pulmonary hypertension: what did we learn from genes?
Pulmonary arterial hypertension (PAH) is an uncommon disorder. PAH can be idiopathic, associated with other conditions or clustered in families. Indeed, at least 6% of individuals diagnosed with so-called "primary" pulmonary hypertension have a family history of the disorder. ⋯ Analysis of other genes encoding TGF-beta receptor proteins, led to the demonstration that PAH in association with hereditary hemorrhagic telangiectasia, an autosomal dominant vascular dysplasia, can involve other TGF-beta receptor subtypes. These observations support the hypothesis that mutations in the TGF-beta superfamily may be a trigger for pulmonary vascular remodeling. Nevertheless, PAH pathobiology remains unclear and genomic approaches may identify additional molecular determinants for this disorder.
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This Issue of Sarcoidosis Vasculitis and Diffuse Lung Diseases is dedicated to a special event which was held in Milan in February 2005. The First International Conference on Rare Pulmonary Diseases and Orphan Drugs in Respiratory Medicine brought together for two days most of the leading world authorities in the field of interstitial lung diseases. Over 200 investigators from 9 different countries convened to assess current knowledge in the field of pathogenesis, diagnosis and therapy of rare lung disorders. An incredible amount of data was discussed during the meeting, testifying to the recent advances in the clinical management of these diseases.