Duhamel J F
Service de Pédiatrie A-Centre Hospitalier Universitaire de Caen.
Bull Acad Natl Med. 2000;184(6):1281-93; discussion 1293-5.
Cystic fibrosis (CF) is the most common severe autosomal recessive disorder amongst Caucasian populations. We have learned a great deal on CF during the past 20 years, mainly with the identification of the CFTR gene in 1989. In the same time, improvements in the therapeutic management dramatically changed its clinical outcome: while in 1946 the median survival was 4-5 years, in 2,000, it reaches 30 years in reference centers. Since the prognosis depends on respiratory functions, a large number of clinical trials were designed to improve them; medical, physiotherapic, and surgical interventions such as a bipulmonary grafts allowed to slow the natural decline of respiratory functions. Early diagnosis and maintaining optimal nutrition such as bipulmonary grafts allowed to slow the natural decline of respiratory functions. Early diagnosis and maintaining optimal nutrition are two other determining factors of prognosis. Nowadays the next step is to resolve the problem of the benefit of gene therapy but no significant progress was observed in that field for the past five years.
囊性纤维化（CF）是白种人群中最常见的严重常染色体隐性疾病。在过去20年里，我们对CF有了很多了解，主要是在1989年鉴定出了CFTR基因。与此同时，治疗管理方面的改进极大地改变了其临床结局：1946年时，中位生存期为4至5年，而到了2000年，在参考中心这一数字达到了30年。由于预后取决于呼吸功能，因此设计了大量临床试验来改善呼吸功能；医学、物理治疗和手术干预（如双肺移植）能够减缓呼吸功能的自然衰退。早期诊断和保持最佳营养状态（如双肺移植）有助于减缓呼吸功能的自然衰退。早期诊断和保持最佳营养状态是另外两个决定预后的因素。如今，下一步是解决基因治疗的益处问题，但在过去五年里，该领域并未取得显著进展。
