4.3 Review

Clinical approach to the diagnosis and treatment of cystic fibrosis and CFTR-related disorders

期刊

EXPERT REVIEW OF RESPIRATORY MEDICINE
卷 10, 期 11, 页码 1177-1186

出版社

TAYLOR & FRANCIS LTD
DOI: 10.1080/17476348.2016.1240032

关键词

Atypical CF; CFTR-related disorder; sweat test; pancreas elastase; CF genotyping; CF specific therapy

向作者/读者索取更多资源

Introduction: Cystic fibrosis (CF) is the most frequent life-shortening autosomal recessive disorder in Caucasians. Defects or absence of the CF-transmembrane conductance regulator impair ion transport in apical membranes of exocrine glands. Leading symptoms of typical CF are exocrine pancreatic insufficiency and progressive pulmonary destruction, causing premature death. Additionally, patients can suffer from chronic rhinosinusitis, hepatic and intestinal involvement, diabetes and predominantly male infertility.Areas covered: CFTR-related disorders affect only one or several different organ systems, often to a milder degree. The definition and usage of the term has seen some variations in the last years, aiming to improve differentiation of the broad clinical spectrum associated with CFTR defects. In this review we present disease characteristics, diagnostic criteria, and treatment options of CFTR-related disorders for a multidisciplinary readership.Expert commentary: CFTR-related disorders are often diagnosed late, leading to lack of specialized attendance and adequate therapy. In clinical care, monitoring of the nutritional status, lung function, airway pathogen colonization and laboratory parameters is necessary to optimize therapy and the course of the disease.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.3
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据