Abstract

Cystic fibrosis is a multisystem disorder of exocrine glands. It is represented as the most common autosomal recessive lethal disorder of white race with an incidence of 1/2000-3500 in live births and a heterozygocity prevalence of 1/25 among whites. The characteristic feature of the disease is the production of abnormal secretions in sweat, salivary, tracheobronchial, colon and pancreatic exocrine glands. Signs of chronic obstructive pulmonary disease and pancreatic insufficiency constitute the presenting signs of cystic fibrosis. Mean survival is 30-33 years but some patients may reach to fourth and fifth decades for homozygotes; however, few patients have been reported to live more than 50 years. Recurrent pulmonary infections are the most common cause of death in cystic fibrosis patients. Cystic fibrosis gene (Cystic Fibrosis Transmembrane Conductance Regulator-CFTR-Gene) has been isolated from affected tissues by cross species hybridization technique. Expression of the CFTR gene in DNA segments isolated by linkage analysis from the affected tissues (i.e. lung, pancreas) might be searched for the diagnosis. More than 1000 mutations has been described in the cystic fibrosis gene. These include missreading of codons occured as a result of deletions and inversions, and missense and nonsenese point mutations. The heterogenicity of these mutations, put forward the necessity of surveillance programs. Specific gene treatment methods are still endeavored to be developed for cystic fibrosis.