Cystic fibrosis

Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells—named cystic fibrosis transmembrane conductance regulator (CFTR)—has improved our u...

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Bibliographic Details
Published in:The Lancet (British edition) 2003-02, Vol.361 (9358), p.681-689
Main Authors: Ratjen, Felix, Döring, Gerd
Format: Article
Language:English
Subjects:
Adolescent
Aerosols
Animals
Bacteria
Biological and medical sciences
Child
Chloride
Chloride ions
Cystic fibrosis
Cystic Fibrosis - diagnosis
Cystic Fibrosis - genetics
Cystic Fibrosis - physiopathology
Cystic Fibrosis Transmembrane Conductance Regulator - genetics
Cytokines
Enzymes
Epithelial cells
Errors of metabolism
Gene expression
Gene therapy
Genetic Therapy
Genotype & phenotype
Hereditary diseases
Humans
Hypotheses
Infant
Infections
Inflammation
Ion channels
Life expectancy
Life span
Liver diseases
Lung diseases
Lung Transplantation
Lungs
Medical prognosis
Medical sciences
Membranes
Metabolic diseases
Mice
Miscellaneous hereditary metabolic disorders
Morbidity
Mutation
Neutrophils
Ostomy
Patients
Pharmacokinetics
Pneumology
Prognosis
Proteinase inhibitors
Respiratory function
Respiratory system : syndromes and miscellaneous diseases
Sodium
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Summary:Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells—named cystic fibrosis transmembrane conductance regulator (CFTR)—has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(03)12567-6