Cystic fibrosis
Introduction
Cystic fibrosis is a chronic illness that affects children. This medical disorder is also known as Mucoviscidosis and it is an inherited disorder, which is autosomal and recessive in nature. It affects two major systems (respiratory and digestive systems) in the children. Recent evidence has shown that disorders affecting the lungs are one of the highest causes of increase morbidity and mortality rates in the children (Pizzignacco & Lima, 2006). Associated complications are the major issues in cystic fibrosis. Technology and advancement in health care system has helped in reducing the associated mortality and morbidity because the disorder can now be controlled more easily than before.
Children diagnosed of this chronic illness are usually faced with some sort of challenges in coping with life as a result of their associated issues with their developmental state and this has been found to influence their family functioning (Patricia, 2008). Since cystic fibrosis is a chronic illness, it has been found that the main characteristic that are associated with chronic illness such as; varying physiological characteristic, also influence the affected child. The major effect of such disease is that it tends to impacts on their families negatively (Cited in Patricia, 2008).
Etiology
This condition is a genetically inherited condition that affects children and the affected gene is inherited from the parents. The affected gene is the long arm of the chromosome 7 and this chromosome is mainly responsible for the production of CFTR membrane protein that tends to play an important role in ions conduction. Genes plays several roles in the body. Such roles include the production of physical characteristic in human such as the height of the individual, the hair color and eye color (Pizzignacco & Lima, 2006).
The main factor in the etiological process of the disorder is that, the child that would present with the disease must have inherited two copies of the impaired gene from the parents. However, for a child that inherited just a single copy from a parent, there is about 25 percent chance of having the disease while those with the two copies will have 50 percent chance of developing the condition. The child with 25 percent chance will always be a carrier of the condition (Pizzignacco & Lima, 2006).
This condition is a disease that affects exocrine gland function, which is related to multiple organs. The problem about the disease is that affected individual are later affected with end-stage lung disease and this is the major cause of death in those patients. About 1000 new cases of the condition are said to be diagnosed each year in the United States and the incidence has been found to be high in whites compared to Asian American or African American (Macha & McDonough, 2011). Another source indicates an improvement in outcomes for those patients in recent times (Strausbaugh & Davis, 2007).
Pathophysiology
This defective gene is related to a protein that is involved in the chloride ion transport in the cell membrane. Abnormally thick secretions are formed from a defect in the exocrine glands. Children with CF have an abnormal gene, which cause some form of secretions issues such as thick and sticky mucus production. It is the secretions with abnormal consistency that now block the airways hence leading to some severe infections. Those secretions also lead to blockage of the pancreas. This in turn affects the production of natural enzymes from the organ. This leads to problem of mal-absorption.
Signs and symptoms
Children with this life threatening condition usually presents with various signs and symptoms that may be noted at birth. Those symptoms that usually occur at birth include meconium ileus or salty skin. Other noticeable presentations are steatorrhea or foul smelling stools, which may be associated with the problems with bowel movements. The issue with bowel movement may be there throughout the first 12 months of the affected child.
Some symptoms such are malabsorption are also identified because of the associated problems with release of pancreatic enzymes that plays a vital role in digestive problems. Respiratory issues include chronic cough and infections that tend to increase in severity with time. Breathing difficulty is the result with hypoxia, subsequent increase rate of fatigue and intolerance to movements or different activities. The resultant effect of this is on the development of the child.
Implications on growth and development
Children with cystic fibrosis are impaired in several ways. Their growth and development is affected. The physical and cognitive aspect of growth and development are majorly impaired and this can be attributed to several complications of the disease, which include respiratory difficulties and malabsorption. The disease causes a generalized dysfunction of multiorgans in the body. Cognitive, social, and emotional development of the affected child will be impaired and the actual problems will depend on the age and the type of feature the child present with (Pizzignacco & Lima, 2006).
The issue with psychosocial development impairment could be linked with the problems with the ability of the child to socialize due to condition. Since the child is not able to attend, school effectively due to lengthy time in hospital or not able to play with friends. These factors will contribute to psychosocial impairment in the affected children (Pizzignacco & Lima, 2006).
Diagnostic test
Sweat test has been considered one of the standard diagnostic tests for this condition. The diagnostic test is used to check for the level or concentration of sodium & chloride in the patient’s sweat. Test showing a chloride concentration more than 60mEq/L is considered as diagnostic. Other diagnostic tests could be done. They include; duodenal secretions, stool analysis, chest x-ray, genetic screening, and pulmonary function studies (Lhynnelli, 2009).
In case of the sweat test, the patient with chloride concentration between 40-60 mEq/L should be considered to be in borderline while any concentration below that is normal for the child (Lhynnelli, 2009). The implication of these diagnostic test for nursing practice is that the nurses need to be aware and become familiar those molecular genetic technologies. Their practice in relation to this condition is that nurses should be able to know or identify those people that could actually benefit in such diagnostic testing. Nurses should be able to communicate with the individual the risks and benefits that may be associated with the test and be able to provide required support when the results is out.
Nursing diagnosis
The relevant nursing diagnosis in cystic fibrosis includes ineffective airway clearance leading obstruction of the airways and breathing difficulty. Nursing Diagnostic could be made in regards to problems with digestion and absorption of nutrient. Risks of infections in the individual and problems with family relationship also represent a nursing diagnosis.
Management
The management of cystic fibrosis starts with planning of the various interventions that will be instituted. Management will be done in a specified order which include; provision of respiratory therapy, administration of the prescribed therapy, ensure patients meet nutritional demands, provide necessary psychosocial support for the child and family, and then discharge planning with home teaching of the child to meet the developmental need. The respiratory therapies will help manage the respiratory distress or obstruction hence to promote the child’s body function. Bronchodilators and mucus tinning medications will also help improve the airways.
Nursing role in this management will focus on implementing those medical therapies that has been planned and help in providing the psychosocial support or relationship for the child to help meet the need (Pizzignacco & Lima, 2006). Some of the respiratory therapies that will be instituted by the nurse will help clear the secretions causing obstruction to airways. This will be in form of chest physiotherapy. Regarding the child’s medication, it could be administer via oral, intravenous, or inhalational route.
In cases of the issue with digestion, this is usually solved by using some pancreatic enzymes that help increases digestion hence improving the child’s health status. The psychosocial support will help the child and family overcome the associated anxiety or fear that might have result from the child’s disorder. It will also educate the parent and encourage them to be able to cope with the signs and symptoms the child might present with. The family will also be educated on the chest clearance techniques that will help the child. They will also be encouraged on ways in which the nutritional demand of the child can be met.
Discharge Implications
The discharge implications for cystic fibrosis patient are that proper education and support must be provided for the family and the patient regarding the chest exercise, medications, and nutrition. This is because the therapies are continuous and must be consistent. If this is not well instituted, complication might arise recurrently leading to terrible life threatening situations.
Prognosis
In recent time, there has been a great improvement in the prognosis of cystic fibrosis although this varies from country to country (Sharma, 2011). Those people affected are now living with high life expectancy i.e. they are expected to survive longer than 40 years of age with the condition (Sharma, 2011). The improvement in the prognosis has been attributed to improvement in diagnostic tools and technology. The improvement was also linked with improvement in medical and nursing care.
Conclusion
Cystic fibrosis is a chronic condition that needs extensive medical and nursing interventions. These measures will help increase the patient’s prognosis and help improve the impaired growth and psychosocial development. Understanding of the etiology and pathology of the condition will help in managing those patients. Results of various interventions and their limitation serve as a future references for further research and clinical studies that will help develop various modifications that will help in managing the affected individual better.
References
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