Abstract
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.
Highlights
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 (CF) is an autosomal-recessive, generalized, multi-organ-system disease caused by a single biochemical abnormality: the defective chloride channel caused by the cystic fibrosis transmembrane conductance regulator (CFTR) protein
The consensus statement from Cystic Fibrosis Foundation [14] reports that the CF diagnosis is suggested by the presence of one or more characteristic clinical features, a history of CF in a sibling, or a positive newborn screening test
Summary
Cystic fibrosis (CF) is an autosomal-recessive, generalized, multi-organ-system disease caused by a single biochemical abnormality: the defective chloride channel caused by the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The pathophysiology of the disease lies in different gene mutations that encode abnormalities in the structure of this protein These abnormalities lead to a physiologic defect in ion (chloride and sodium) transport at the apical membrane of epithelial surfaces [1]. The consensus statement from Cystic Fibrosis Foundation [14] reports that the CF diagnosis is suggested by the presence of one or more characteristic clinical features, a history of CF in a sibling, or a positive newborn screening test This will be confirmed by laboratory evidence for CFTR dysfunction, namely, two positive sweat tests or identification of two CF-causing mutations. For patients in whom sweat chloride concentrations are normal or borderline and in whom two CF mutations are not identified, abnormal nasal PD measurements recorded on two separate days can be used as evidence for CFTR dysfunction [14]. In CF patients, because of the lack of CFTR protein in the sweat-duct lining, there is no reabsorption of sodium and chloride; high salt-levels are seen in the sweat
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