CELLULAR PROCESSES AND THE GENETIC ENVIRONMENT
Role of genetics in the disease
Cystic fibrosis is a genetic disorder caused by mutation of the CT transmembrane conductance regulator (CFTR) gene. The CFTR protein produced by the gene regulates the flow of salts and fluids across epithelial cell membranes. A defective CFTR causes a build-up of thick, viscous secretions in several organ systems, but they are common in the raspatory, gastrointestinal, and pulmonary systems (Tsui, 2018). The salty tasty is caused by a defect in the CFTR protein, causing two to five times the normal amount in their swear. Increased mucous secretions in the lung and upper respiratory tract cause chest congestion. Cystic fibrosis presents with Distal intestinal obstruction syndrome, which causes blockages in the small bowels resulting in stomach pain, bloating, nausea, and weight loss.
The poor regulation of salt, ions, and water increases epithelial cell permeability, causing increased water and salt loss. The innate and adaptive immune responses to pathogens, such as Pseudomonas aeruginosa and Aspergillus fumigatus is altered with an increase in neutrophil chemoattractant (Davis, 2016). There is an exaggeration in cytokinin responses to bacterial infections in CF. The physiologic reactions occurred due to reduced bod defense or a child’s immunity and inflammation in the respiratory systems. The cells involved in physiologic responses are neutrophils, T-cells, and macrophages due to an increase in infections. The responses occurred to form a line of defense against the rising infection cases and secretion exacerbations.
The genetic composition of an individual varies, and this dictates the disease symptoms experienced (Davis, 2016). The clinical presentations of cystic fibrosis are more severe in females than males depending on the age groups. The characteristics of cystic fibrosis present early in female children due to elevation in estrogen hormone. They are characterized by difficulty in breathing, poor fat break-down, low weight, and cough, and wheezing. Children older than four years can suffer from intussusceptions. There is no current treatment for cystic fibrosis, but it is directed towards management of symptoms. Early diagnosis is important to help prevent and treat infections, and maintain adequate calories and nutrition.
References
Davis, P. B. (2016). Cystic fibrosis since 1938. American journal of respiratory and critical care medicine, 173(5), 475-482. Retrieved from https://www.atsjournals.org/doi/full/10.1164/rccm.200505-840OE
Tsui, L. C. (2018). The spectrum of cystic fibrosis mutations. Trends in Genetics, 8(11), 392-398. Retrieved from: https://www.sciencedirect.com/science/article/abs/pii/016895259290301J