Wood Lisa G, Gibson Peter G, Garg Manohar L
Department of Respiratory and Sleep Medicine, Hunter Medical Research Institute, John Hunter Hospital, Newcastle, 2310, NSW, Australia.
Clin Chim Acta. 2005 Mar;353(1-2):13-29. doi: 10.1016/j.cccn.2004.11.002.
Cystic fibrosis (CF) is the most commonly occurring lethal autosomal recessive disorder. The gene defect causes defective sodium and chloride transport across epithelial cells of the respiratory, hepatobiliary, gastrointestinal and reproductive tracts, resulting in thick mucus secretions. In the respiratory tract, mucus traps bacteria, causing repeated lung infections, progressive bronchiectasis and eventual death due to respiratory failure. In the gastrointestinal tract, mucus prevents pancreatic enzymes reaching the gut, leading to nutrient malabsorption. Careful nutritional management has a dramatic effect on growth and survival rates in CF. Appropriate nutritional support includes pancreatic enzyme replacement therapy, a high-fat/high-energy diet and essential nutrient supplementation, specifically fat-soluble vitamins and essential fatty acids (EFA). Long-term studies are required to examine the effects of nutritional interventions on key clinical outcomes in CF, such as the rate of decline of lung function. The use of circulating markers to assess the influence of nutritional therapy allows short-term intervention studies to predict the potential for clinical improvements. This article provides an overview of the biomarkers useful in the prediction of the efficacy of nutritional therapy on improvements in quality and quantity of life in CF.
囊性纤维化（CF）是最常见的致死性常染色体隐性疾病。基因缺陷导致钠和氯跨呼吸道、肝胆、胃肠道及生殖道上皮细胞的转运出现缺陷，从而产生黏稠的黏液分泌物。在呼吸道，黏液会困住细菌，导致反复的肺部感染、进行性支气管扩张，并最终因呼吸衰竭而死亡。在胃肠道，黏液会阻止胰腺酶到达肠道，导致营养物质吸收不良。精心的营养管理对CF患者的生长和存活率有显著影响。适当的营养支持包括胰腺酶替代疗法、高脂/高能量饮食以及必需营养素补充，特别是脂溶性维生素和必需脂肪酸（EFA）。需要进行长期研究以检验营养干预对CF关键临床结局的影响，如肺功能下降速率。使用循环标志物来评估营养治疗的影响，可使短期干预研究预测临床改善的可能性。本文概述了有助于预测营养治疗对改善CF患者生活质量和数量疗效的生物标志物。
