The pathological features of cystic fibrosis and the diagnostic techniques and treatments involved

Abstract

Cystic fibrosis is a disease found predominantly in Caucasians. It is caused by an autosomal recessive mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The mutation(s) lead to defective CFTR proteins, or transmembrane cyclic adenosine monophosphate (cAMP)-dependent chloride channels found on the surface of epithelial cells. The respiratory system is most impacted by this abnormal phenotype, and lung disease can bring about the majority of the various issues that a cystic fibrosis patient has to deal with. Even so, due to the excess amount of mucus that is secreted, individuals diagnosed with cystic fibrosis experience complications in other organs as well. Today, newborn screening is widely used as a means of early diagnosis of cystic fibrosis, and there are also multiple other novel technologies that aim for accurate diagnosis and prevention of the disease. In addition, while traditional treatment programs are based on curing the symptoms that the patients exhibit, new regimens are directed at correcting the error that occurred at the molecular level. With improvements made in the medical field, cystic fibrosis patients are able to live longer and have a better quality of life. This review article serves as a compilation of the current knowledge on the causes of cystic fibrosis, the physiological processes associated with the disease, the techniques for diagnosis of the disease, and finally the recent and upcoming therapeutics for the disease.