*Joint and equal first authors; Medizinische Klinik V (Pneumology), LMU University of Munich, Pneumology, Medizinische Klinik Innenstadt, University of Munich; Department of Pediatrics, Justus-Liebig-University Gießen.
Dtsch Arztebl Int. 2017 Aug 21;114(33-34):564-574. doi: 10.3238/arztebl.2017.0564.
Universal screening of newborn babies for cystic fibrosis was launched in Germany on 1 September 2016. Here we present up-to-date information on the diagnosis, treatment, and prognosis of this disease.
This article is based on relevant publications retrieved by a selective search in PubMed, along with guidelines from Germany and abroad and systematic reviews.
Cystic fibrosis is caused by a gene mutation leading to dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. It affects multiple organ systems-the lungs, pancreas, upper airways, liver, intestine, and reproductive organs-to varying degrees. Its incidence among newborn babies in Germany is between 1 in 3300 and 1 in 4800. Its diagnosis requires both clinical evidence (positive newborn screening, sibling[s] with cystic fibrosis, clinical signs) and the demonstration of CFTR dysfunction by an elevated chloride concentration in sweat, and/or two disease-causing mutations, and/or abnormal electrophysiological findings (nasal potential difference measurement, intestinal short-circuit current measurement). Patients should be cared for by specialized cystic fibrosis centers in close cooperation with their primary care physicians. The median life span of patients with this disease has risen steadily to the current value of 40 years. Aside from symptomatic treatment, the first mutation- specific treatments have recently become available.
Early diagnosis and optimized treatment prolong the lives of persons with cystic fibrosis and improve their quality of life. Causally directed treatment for all patients and their effects on the course of disease are now central issues for further research.
2016 年 9 月 1 日，德国开始对新生儿进行囊性纤维化的普遍筛查。本文提供了有关该病的最新诊断、治疗和预后信息。
本文基于在 PubMed 中进行选择性检索获得的相关出版物，以及德国和国外的指南和系统评价。
囊性纤维化是由基因突变导致囊性纤维化跨膜电导调节因子（CFTR）蛋白功能障碍引起的。它会不同程度地影响多个器官系统，包括肺、胰腺、上呼吸道、肝脏、肠道和生殖器官。在德国，新生儿的发病率在 1/3300 到 1/4800 之间。其诊断需要临床证据（阳性的新生儿筛查、有囊性纤维化的兄弟姐妹、临床症状）和汗液中氯离子浓度升高、或两种致病突变、或异常的电生理发现（鼻电位差测量、肠道短路电流测量）证明 CFTR 功能障碍。患者应由专门的囊性纤维化中心在初级保健医生的密切合作下进行治疗。这种疾病患者的中位寿命已稳步上升至目前的 40 岁。除了对症治疗外，最近还出现了针对特定基因突变的治疗方法。
早期诊断和优化治疗可延长囊性纤维化患者的生命并提高其生活质量。针对所有患者的病因治疗及其对疾病进程的影响，现在是进一步研究的核心问题。
