摘要
Cystic fibrosis is now the most common serious, autosomal-recessive disease. It has been described in every population in all parts of the world. In the US, newborn screening is available in all states. Current studies demonstrate that newborn screening, early diagnosis, early nutritional and environmental intervention, and an understanding of the pathophysiology of the disease may increase life expectancy and quality-of-life. Evidence-based guidelines encourage the use of early nutritional intervention and initiation of pulmonary therapies. The average lung function of patients with cystic fibrosis corresponds with genetic makeup, age of intervention, and environmental factors including the socioeconomic status of the patient's family. We reviewed and updated current understanding of the pathophysiology of the disease, diagnosis, and the benefits of early diagnosis via newborn screening in evaluating the nutritional status of our youngest cystic fibrosis patients;the direct correlation of malnutrition to pulmonary- and cognitive-function outcomes are reviewed and updated from literature.
Cystic fibrosis is now the most common serious, autosomal-recessive disease. It has been described in every population in all parts of the world. In the US, newborn screening is available in all states. Current studies demonstrate that newborn screening, early diagnosis, early nutritional and environmental intervention, and an understanding of the pathophysiology of the disease may increase life expectancy and quality-of-life. Evidence-based guidelines encourage the use of early nutritional intervention and initiation of pulmonary therapies. The average lung function of patients with cystic fibrosis corresponds with genetic makeup, age of intervention, and environmental factors including the socioeconomic status of the patient's family. We reviewed and updated current understanding of the pathophysiology of the disease, diagnosis, and the benefits of early diagnosis via newborn screening in evaluating the nutritional status of our youngest cystic fibrosis patients;the direct correlation of malnutrition to pulmonary- and cognitive-function outcomes are reviewed and updated from literature.
