Cystic Fibrosis.
Cystic Fibrosis.
复制标题
囊性纤维化。
DOI：
10.1542/pir.2019-0212
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发表时间：
2021-03
影响因子：
1.3
通讯作者：
Collaco JM
中科院分区：
文献类型：
--
作者：
Dickinson KM;Collaco JM
囊性纤维化（CF）是最常见的遗传性疾病之一。临床特征包括进行性阻塞性肺病、鼻窦炎、导致吸收不良和营养不良的胰腺外分泌功能不全、肝脏和胰腺功能障碍以及男性不育。尽管CF是一种缩短寿命的疾病，但由于通过常规新生儿筛查进行早期诊断、颁布循证指南以优化营养和肺部健康以及CF的发展，生存率持续提高，中位年龄为44.4岁。特定的跨学科护理中心。囊性纤维化患者未来的健康和生活质量改善可能与突变特异性调节剂疗法的最新发展有关。在这篇综述中，我们将介绍目前对CF的疾病表现、诊断和管理以及常见并发症的认识。
Cystic fibrosis (CF) is one of the most commonly diagnosed genetic disorders. Clinical characteristics include progressive obstructive lung disease, sinusitis, exocrine pancreatic insufficiency leading to malabsorption and malnutrition, liver and pancreatic dysfunction, and male infertility. Although CF is a life-shortening disease, survival has continued to improve to a median age of 44.4 years due to earlier diagnosis through routine newborn screening, promulgation of evidence-based guidelines to optimize nutritional and pulmonary health, and development of CF-specific interdisciplinary care centers. Future improvements in health and quality of life for individuals with cystic fibrosis are likely with the recent development of mutation-specific modulator therapies. In this review, we will cover the current understanding of the disease manifestations, diagnosis, and management as well as common complications seen in individuals with CF.
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影响因子：
9.6
作者：
Flume, PA;Strange, C;Clark, LL
通讯作者：
Clark, LL
DOI：
10.1016/j.jcf.2005.05.010
发表时间：
2005-08-01
期刊：
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
影响因子：
--
作者：
Dinwiddie, Robert
通讯作者：
Dinwiddie, Robert
DOI：
10.1164/ajrccm.157.6.9708067
发表时间：
1998-06-01
影响因子：
24.7
作者：
Brinson, GM;Noone, PG;Jaques, PF
通讯作者：
Jaques, PF
影响因子：
6.1
作者：
Boyd, JM;Mehta, A;Murphy, DJ
通讯作者：
Murphy, DJ
影响因子：
5.1
作者：
BOROWITZ, DS;GRAND, RJ;ZERIN, JM
通讯作者：
ZERIN, JM