Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD.
Pediatr Rev. 2021 Feb;42(2):55-67. doi: 10.1542/pir.2019-0212.
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 46.2 years due to earlier diagnosis through routine newborn screening, promulgation of evidence-based guidelines to optimize nutritional and pulmonary health, and the development of CF-specific interdisciplinary care centers. Future improvements in health and quality of life for individuals with CF 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.
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疾病、鼻窦炎、外分泌胰腺功能不全导致吸收不良和营养不良、肝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更早地诊断、颁布了优化营养和肺部健康的循证指南，以及开发了 CF 特异性的多学科护理中心，生存时间继续得到改善，中位年龄达到 46.2 岁。由于最近开发了针对突变的调节剂治疗方法，CF 患者的健康和生活质量可能会进一步提高。在这篇综述中，我们将介绍 CF 的疾病表现、诊断和管理以及 CF 患者常见并发症的最新认识。
