Cystic fibrosis: Present and future

被引:19
作者
Milla, PJ
机构
[1] Great Ormond St Hosp Children, London WC1N 1EH, England
[2] Inst Child Hlth, London WC1N 1EH, England
关键词
cystic fibrosis; genotype; gene therapy; nutrition; fibrosing; colonopathy; transplantation;
D O I
10.1159/000007533
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Cystic fibrosis (CF) is an inherited disorder of epithelial chloride transport affecting primarily pancreas, lungs, gut, liver and exocrine glands. The defect is caused by defects of the cystic fibrosis transmembrane regulation gene on chromosome 7. Genotyping has proved useful in identifying gene carriers, a definitive diagnosis, and in antenatal diagnosis. Genotype/phenotype relationships have shown that the commonest cause of pancreatic insufficiency is the D F508 mutation. Clinical trials are exploring the use of somatic gene therapy but this is not yet a viable treatment option. Liver, lung and intestinal disease result in malnutrition which causes further dysfunction of these organs. Aggressive nutritional and pancreatic enzyme therapy results in improved disease, normal growth and increased survival. However, high-dose enzyme therapy may in some individuals cause a fibrosing colonopathy. For those with end-stage liver and lung disease, transplantation holds out some hope.
引用
收藏
页码:579 / 588
页数:10
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