Goetz Danielle, Ren Clement L
Pediatr Ann. 2019 Apr 1;48(4):e154-e161. doi: 10.3928/19382359-20190327-01.
Cystic fibrosis (CF) is an autosomal recessive disease characterized by pancreatic insufficiency and chronic endobronchial airway infection. This latter feature results in progressive bronchiectasis and ultimately respiratory failure, which is the leading cause of death in patients with CF. Other complications include sinusitis, diabetes mellitus, bowel obstruction, hepatobiliary disease, hyponatremic dehydration, and infertility. Diagnosis of CF is confirmed by demonstration of elevated sweat chloride. Most cases of CF are identified through newborn screening (NBS). There are also infants with positive NBS but inconclusive diagnostic testing; a small proportion of these infants may go on to develop CF. CF is a lifelong, life-limiting disease, but an organized care center network with multidisciplinary approach, quality improvement initiatives, and research has led to markedly increased survival and development of adult CF care programs. In the past few years, medications that directly target the underlying CF defect have been developed, which should result in even greater survival benefits. [Pediatr Ann. 2019;48(4):e154-e161.].
囊性纤维化(CF)是一种常染色体隐性疾病,其特征为胰腺功能不全和慢性支气管内气道感染。后一特征会导致进行性支气管扩张,并最终导致呼吸衰竭,这是CF患者的主要死因。其他并发症包括鼻窦炎、糖尿病、肠梗阻、肝胆疾病、低钠血症性脱水和不育症。通过证明汗液氯化物升高来确诊CF。大多数CF病例是通过新生儿筛查(NBS)发现的。也有NBS呈阳性但诊断测试结果不确定的婴儿;这些婴儿中有一小部分可能会发展为CF。CF是一种终身的、危及生命的疾病,但一个有组织的护理中心网络,采用多学科方法、质量改进措施和开展研究,已使生存率显著提高,并推动了成人CF护理项目的发展。在过去几年中,已开发出直接针对CF潜在缺陷的药物,这应该会带来更大的生存益处。[《儿科年鉴》。2019年;48(4):e154 - e161。]