Padman Raj, Flathers Kristina, Passi Vandna
Division of Pulmonology, Nemours/A.I. duPont Hospital for Children, Wilmington, Del., USA.
Del Med J. 2012 May;84(5):149-55.
With newborn screening for cystic fibrosis (CF) now accessible in every state in the US, more infants are being diagnosed. Currently, no large-scale randomized studies are available to assist clinicians in providing evidence-based medical care for the youngest CF patients. We review the standard of diagnostic evaluation, the sweat test, showing a slightly altered range for infants less than 6 months of age. Cystic fibrosis transmembrane conductance regulator (CFTR) metabolic syndrome is an entity that can be clinically challenging for parents and caregivers. Simply indentifying infants with CF can be challenging. This review tries to clarify the CFTR gene and its expressions and the additional benefits that may be drawn from newborn screening. We searched literature to review guidelines for care of infants with CF, and we reviewed newborn screening methods and diagnosis. We focused on early nutritional intervention and lung protective strategies to improve growth and lung function outcomes.
随着美国各州现已开展新生儿囊性纤维化（CF）筛查，越来越多的婴儿被诊断出患有该病。目前，尚无大规模随机研究可协助临床医生为最小的CF患者提供循证医疗护理。我们回顾了诊断评估标准——汗液试验，该试验显示6个月以下婴儿的参考范围略有不同。囊性纤维化跨膜传导调节因子（CFTR）代谢综合征是一种在临床上面临挑战的疾病，对家长和护理人员来说都是如此。仅仅识别出患有CF的婴儿就可能具有挑战性。本综述旨在阐明CFTR基因及其表达，以及新生儿筛查可能带来的额外益处。我们检索文献以回顾CF婴儿的护理指南，并审视了新生儿筛查方法和诊断。我们重点关注早期营养干预和肺保护策略，以改善生长和肺功能结局。
