Cordier Jean-François
Service de Pneumologie - Centre des Maladies Orphelines Pulmonaires - Hôpital Cardiovasculaire et Pneumologique Louis Pradel, 69677 Lyon (Bron) Cedex.
Bull Acad Natl Med. 2004;188(5):755-63; discussion 764-5.
As their name implies, orphan diseases are rare, often poorly studied diseases. Patients with orphan diseases are often deprived of adequate diagnosis and treatment. To promote a comprehensive study of orphan pulmonary diseases, we established a network of pulmonologists, allowing us to collect and study several series of patients. Based on the examples of lymphangioleiomyomatosis and idiopathic eosinophilic pneumonia, we emphasize the value of a global approach to orphan diseases within the context of a medical specialty.
顾名思义，罕见病是一类罕见且常常研究不足的疾病。患有罕见病的患者往往无法得到充分的诊断和治疗。为推动对罕见肺部疾病的全面研究，我们建立了一个肺科医生网络，这使我们能够收集并研究多组患者。以淋巴管平滑肌瘤病和特发性嗜酸性粒细胞性肺炎为例，我们强调在医学专科背景下对罕见病采取整体研究方法的价值。
