A review in Variation Aspect of Cystic Fibrosis (CF)

Cystic fibrosis (CF) is a monogenic disease caused by mutations of the geneencoding the cystic fibrosis transmembrane conductance regulator (CFTR).In the present article, a comprehensive literature review is performed on,the clinical and genetic characteristics of cystic fibrosis. Classical cysticfibrosis is characterized by chronic pulmonary infection and inflammation,pancreatic exocrine insufficiency, male infertility, and might include severalcomorbidities such as cystic fibrosis-related diabetes or cystic fibrosis liverdisease. This autosomal recessive disease is diagnosed in many regionsfollowing the newborn screening, whereas in other regions, diagnosis isbased on a group of recognized multiorgan clinical manifestations, raisedsweat chloride concentrations, or CFTR mutations. Management strategies,including augmenting mucociliary clearance and aggressively treatinginfections, have gradually improved life expectancy for people with cysticfibrosis. However, restoration of CFTR function via new small moleculemodulator drugs is transforming the disease for many patients. Clinical trialpipelines are actively exploring many other approaches, which will beincreasingly needed as survival improves and as the population of adultswith cystic fibrosis increases. This review provides a general update on CF,including screening and current and future treatment.

کلیدواژه ها:

Cystic fibrosis ، CFTR ، clinical feature ، mutation ، monogenicdisease