Introduction
Cystic fibrosis is a hereditary condition in which specific glands express an unusually viscous secretion that results in injury to tissues and organs, particularly the lungs and intestinal system. Such mucus clogs the ducts in the lungs and pancreas, which over time, can lead to life-threatening lung damage and severe digestive problems (Goetz & Ren, 2019). Hence, it is essential to establish the etiology, manifestations, symptoms, treatment, and management of the disorder.
Etiology
The pathological changes in cystic fibrosis are caused by gene transformation. It is inherited by autosomal recessive inheritance of two mutant genes in the parents (Goetz & Ren, 2019). This gene has been identified as a regulatory agent of transmembrane conduction in fibrosis (CFTR). The CFTR gene controls the presence of a muscle protein that regulates the effects of chloride, sodium bicarbonate, and hydrogen sodium through cell membranes; the variants in the CFTR gene lead to impaired performance of the muscle protein (Goetz & Ren, 2019). If the protein does not operate correctly, the movement of chloride, bicarbonate, and sodium is disrupted, which leads to the fact that the secretions of various glands in the system coagulate and become more viscous.
Clinical Manifestation
Cystic fibrosis affects many human organs and virtually all of the glands that discharge secretions into the ducts. The formation of mucus plugs causes permanent infections and bacterial inflammation, irreversibly harming the respiratory tract (Goetz & Ren, 2019). Such challenges contribute to increasing difficulty breathing and reduce the ability of the lungs to deliver oxygen to the bloodstream. Additionally, digestive enzymes cannot reach the intestines due to blockage of the pancreatic ducts (Goetz & Ren, 2019). A deficiency of these enzymes leads to damaged fats, proteins, and vitamin absorption. Insufficient absorption, in turn, can lead to malnutrition and stunted growth. Furthermore, the intestines may be closed by thick secretions, and such obstruction often appears immediately after birth because the interior of the fetus’s stomach is unusually thick.
Symptoms
Signs of cystic fibrosis may change according to a person’s age. Frequently, newborns with cystic fibrosis develop meconium-induced bowel obstruction, causing vomiting, an enlarged abdomen, and a lack of bowel emptying (Goetz & Ren, 2019). In some newborns, there is bowel obstruction or intestinal maldevelopment. Furthermore, about half of children with cystic fibrosis, if the diagnosis was not made during the newborn screening, initially visit a doctor due to frequent coughing, wheezing, and respiratory tract infections. The cough, the most prominent symptom, is often accompanied by regurgitation, vomiting, and sleep disturbances. Older children and adults may experience constipation or develop recurrent and sometimes chronic bowel obstruction; symptoms include altered defecation patterns, spastic abdominal pain, decreased appetite, and sometimes vomiting (Goetz & Ren, 2019). Adolescents often have stunted growth and delayed sexual development.
Diagnostics
It is significant to mention that the diagnosis of cystic fibrosis is based on laboratory and instrumental studies, clinical presentation, physical examination, and functional diagnostic tests. Furthermore, all infants in the United States are tested for cystic fibrosis. It is also acceptable to use perspiration testing for persons with positive test findings. Genetic analysis of the abnormal CFTR gene can help diagnose cystic fibrosis in a patient with a positive screening test (Goetz & Ren, 2019). It is also acceptable for an individual with one or more typical features or a person with a sibling suffering from cystic fibrosis.
Management
Since the disease is genetic, the treatment of cystic fibrosis is aimed at maintaining the vital functions of the affected organs and normalizing the work of the exocrine glands. The patient is monitored by a doctor for the rest of his life; the doctor performs examinations every three months. The patient has been prescribed mucolytics, bronchodilators to thin sputum, kinesiotherapy massages, breathing exercises, and drains (Goetz & Ren, 2019). Additionally, during stationary treatment, patients take antibiotics if there is an inflammatory infection, corticosteroids, or nonsteroidal anti-inflammatory drugs as needed by inhalation. Clinical guidelines for cystic fibrosis include a high-protein, fat-free diet (Goetz & Ren, 2019). Furthermore, general tonic agents are indicated, and treatment in a health resort is indicated for mild forms of the disease.
Potential Complications
There are numerous complications associated with cystic fibrosis in patients. Insufficient absorption of fat-soluble vitamins A, D, E, and K can lead to hen blindness, osteopenia, osteoporosis, anemia, and blood clotting disorders (Goetz & Ren, 2019). Without treatment in newborns and toddlers, the rectal mucosa can bulge through the anus. Besides, aggravations of cystic fibrosis in youngsters and adults involve the rupture of tiny air sacs in the pulmonary cavity into the pleural cavity (Goetz & Ren, 2019). Additional complications include cardiac failure and significant or repeated breathing tract bleeding.
Nursing Interventions and Care, Expected Medical Management and Patient Teaching
It is significant to mention that the role of the nurse in the treatment of the disease is essential. This is because nursing care for patients with cystic fibrosis contains acceptable supporting oxygenation and encourages efforts to dismiss pulmonary secretions. Nurses are also concerned about ensuring that patients consume enough fluids and follow a diet to prevent complications (Goetz & Ren, 2019). The medical remedy contains antibiotics to treat and control lung diseases, and anti-inflammatory drugs reduce bloating of the respiratory tract in the lungs. Medications to loosen mucus, such as hypertonic fluid, help cough up mucus. Patient teaching is essential because the disease is long-lasting, and it is required to inform them about the rules of a balanced diet and exercise to maintain health (Goetz & Ren, 2019). It should also be explained that special attention should be focused not only on physical health but also on mental health.
Conclusion
Thus, cystic fibrosis is a systemic hereditary disease that mainly affects the lungs, pancreas, sweat glands, and other organs. Patients with cystic fibrosis have a gene mutation in the CFTR protein. Symptoms usually appear in childhood, and their severity varies depending on the type of mutation. Accordingly, the disease requires outpatient care and constant support for the patient. Hence, in addition to medications, patients also need continuous care and compliance with physicians’ daily recommendations.
Reference
Goetz, D., & Ren, C. L. (2019). Review of cystic fibrosis. Pediatric Annals, 48(4), 154-161. Web.