Cystic fibrosis is caused by mutations in the CFTR (Cystic fibrosis transmembrane conductance regulator) gene. The DNA molecule based on which the protein is built is changed; a break in the gene can completely stop the production of the protein or reduce its efficiency, resulting in a partial or complete loss of the protein’s function. There is a specific direct link between CFTR gene mutations and pancreatic damage (Patricks, 2022). This organ has two main functions – it produces digestive enzymes and hormones and releases them into the bloodstream to maintain glucose levels.
In the development of cystic fibrosis, three main points are leading: lesions of the external secretion glands, changes in the connective tissue, and water and electrolyte disorders. The intestinal form of cystic fibrosis is characterized by enzyme insufficiency and impaired absorption of valuable substances in the intestine (Philip, 2022). For this reason, the child does not gain weight. An increased chloride content explains the salty taste of the patient’s skin in the sweat. Mucus secreted in the airways is necessary to remove dust and bacteria from them, but in cystic fibrosis, the production and structure of bronchial secretion is impaired (Robinson, 2022). This mechanism of how the diagnosis affects lung function explains the congestion in the chest.
In the development of cystic fibrosis, three main points are leading: lesions of the external secretion glands, changes in the connective tissue, and water-electrolyte disorders. The cause of cystic fibrosis is a gene mutation that disturbs the structure and function of the protein involved in water-electrolyte metabolism of the epithelium lining the bronchopulmonary system, pancreas, liver, and gastrointestinal tract (Collins, 2022). Inflammatory processes associated with mucus congestion and the development of pathogenic microorganisms gradually disrupt protective systems in the bronchial tissue. Some mutations in CFTR cause disease manifestations only in certain tissues; for example, many of them disrupt splicing efficiency have a greater effect in Wolff ductus derivatives than in other tissues.
Many different phenotypes are seen in cystic fibrosis patients, they cause various symptoms. If the disease is diagnosed at birth and a genetic predisposition is determined, patients often have growth problems; in later stages, complaints of respiratory abnormalities appear. More than 95% of men with cystic fibrosis have the risk of getting azoospermia due to congenital bilateral absence of the seminal duct (Robinson, 2022). If a child is a girl they will have less problems with fertility.
References
Collins, J. (2022). Conquering cystic fibrosis: The complete recovery to cystic fibrosis disorders treatments, supplements, home remedies and coping strategies for your complete wellness. Independently published.
Patricks, M. (2022). Cystic fibrosis treatment and cure manual: The ultimate guide to treatment and prevention of cystic fibrosis. Independently published.
Philip, A. (2022). Cystic fibrosis: all you must know on how to cure cystic fibrosis from the causes, treatment, preventions, management and more. Independently published.
Robinson, F. (2022). Cystic fibrosis: Diagnosis and management. Murphy & Moore Publishing.