A Mini Review on Clinical Aspects of Cystic Fibrosis

Cystic fibrosis (CF) is a multisystem disorder among children, caused by mutations of the gene encoding 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 in children. Classical cystic fibrosis is characterized by chronic pulmonary infection and inflammation, pancreatic exocrine insufficiency, male infertility, and might include several comorbidities such as cystic fibrosis-related diabetes or cystic fibrosis liver disease. This autosomal recessive disease is diagnosed in many regions following the newborn screening, whereas in other regions, diagnosis is based on a group of recognized multiorgan clinical manifestations, raised sweat chloride concentrations, or CFTR mutations. Management strategies, including augmenting mucociliary clearance and aggressively treating infections, have gradually improved life expectancy for people with cystic fibrosis. However, restoration of CFTR function via new small molecule modulator drugs is transforming the disease for many patients. Clinical trial pipelines are actively exploring many other approaches, which will be increasingly needed as survival improves and as the population of adults with cystic fibrosis increases. This review provides a general update on CF, including screening and current and future treatment.

کلیدواژه ها:

Cystic fibrosis ، chronic lung disease ، CFTR ، clinical feature ، P. aeruginosa