Rosenfeld Margaret, Sontag Marci K, Ren Clement L
Division of Pulmonary Medicine, Seattle Children's Hospital, University of Washington School of Medicine, 4800 Sand Point Way Northeast, Seattle, WA 98105, USA.
Department of Epidemiology, Colorado School of Public Health, Anshutz Medical Center, University of Colorado, 13001 East 17th, Aurora, CO 80045, USA.
Pediatr Clin North Am. 2016 Aug;63(4):599-615. doi: 10.1016/j.pcl.2016.04.004.
The diagnosis of cystic fibrosis (CF) has evolved over the past decade as newborn screening has become universal in the United States and elsewhere. The heterogeneity of phenotypes associated with CF transmembrane conductance regulator (CFTR) dysfunction and mutations in the CFTR gene has become clearer, ranging from classic pancreatic-insufficient CF to manifestations in only 1 organ system to indeterminate diagnoses identified by newborn screening. The tools available for diagnosis have also expanded. This article reviews the newest diagnostic criteria for CF, newborn screening, prenatal screening and diagnosis, and indeterminate diagnoses in newborn-screened infants and symptomatic adults.
在过去十年中，随着新生儿筛查在美国及其他地区普及，囊性纤维化（CF）的诊断方法不断发展。与囊性纤维化跨膜传导调节因子（CFTR）功能障碍及CFTR基因突变相关的表型异质性愈发明显，涵盖从典型的胰腺功能不全型CF到仅在一个器官系统出现症状，再到新生儿筛查发现的不确定诊断。可用的诊断工具也有所增加。本文回顾了CF的最新诊断标准、新生儿筛查、产前筛查与诊断，以及新生儿筛查婴儿和有症状成人的不确定诊断。
