CNA116 Nursing- Pathophysiology of Cystic Fibrosis

Introduction

The present paper is based on the case study of 15 year old Stephanie Mills diagnosed with cystic fibrosis at birth. The analysis firstly explains the pathophysiology of cystic fibrosis and the related clinical manifestations. The paper then discusses the comorbidities of diabetes and malnutrition and the impact of these on the health of the patient, further, the paper analyses the relevant literature to discuss the associated functional impairment related to the case study. Thereafter it reflects on the complexity of caring for the patient in the community and the proactive care required. Lastly, resources and services are recommended that are required for caring for the patient that includes pharmacological management.

Pathophysiology of cystic fibrosis and the related clinical manifestations

Cystic fibrosis (CF) is a genetic disorder of the exocrine gland affecting primarily the lungs, but also the liver, intestine, pancreas and kidneys of the patient suffering from this chronic disease. The disease is an inherited autosomal recessive disorder caused due to mutation of the gene cystic fibrosis transmembrane conductance regulator (CFTR) normally functioning as a chloride channel, regulated by the cyclic monophosphate (cAMP) (Cuttin, 2015). A number of mutations can occur in the CFTR gene and different mutations lead to different defects in the protein formed by the gene that leads to mild to severe effects. Common defects include faulty folding of proteins, short length protein and production of proteins that are not capable of using energy in the form of ATP. Such a mutation restricts movement of iodine, chloride and thiocyanate across the cell membrane suitably. The abnormalities in cAMP-regulated chloride transport across the epithelial cells on mucosal surfaces are the main characteristic of this disease. The defect leads to decreased secretion of chloride and in addition reabsorption of water and sodium across epithelial cells in increased. Decreased hydration of mucus together with increased amount of lining fluid leads to mucus formation promoting inflammation and infection. Secretions in the pancreases, sweat glands, respiratory tract, and GI tract, apart from other exocrine tissues have more viscosity (Martin et al., 2017).

According to Stoltz et al., (2015) most of the patients suffering from cystic fibrosis have clinical manifestations of lung disease along with exocrine pancreatic insufficiency. In addition, there are other associated clinical manifestations that are of serious concern. Manifestations related to the lower airway includes chronic infection with organisms such as staphylococcus aureus , Haemophilus influenzae and Pseudomonas aeruginosa. Acute exacerbations, bronchiectasis, allergic bronchopulmonary aspergilllosis and atypical mycobacterial infection are the other clinical manifestations. Complications of the upper airway tract include pansinusitis and nasal polyposis.manifestations of the liver include gall stones, portal hypertension and bile duct stricture. Gastrointestinal complications and comorbidities include coeliac disease, distal intestinal obstruction syndrome, severe constipation, Crohn’s disease and giardiasis. Problems of the sweat gland include electrolyte depletion in the sweat. Patients also might suffer from genitourinary complications, bone diseases such as immobility, pubertal delay and malabsorption of vitamin K and D, and endocrine pancreatic failure such as insulin deficiency. It is to be noted that most of the mortality of CF is due to the respiratory diseases. The primary signs and symptoms of cystic fibrosis are poor growth, salty-tasting skin, and poor weight gain apart from thick and sticky mucus and frequent shortness of breath and coughing, and frequent chest infections.

Comorbidities of diabetes and malnourishment and the impact of these on the health of the person and her family

Diabetes and malnutrition are two health condition that is known for a number of comorbidities, each of which has a drastic impact on the lives of the patients as well as family members. Hall (2015) outlined the comorbidities of diabetes and the impact on health. Around 67% of patients suffering from diabetes have uncontrolled hypertension and elevated blood pressure. The combination of diabetes and hypertension further magnifies the risk of diabetic complications. Elevated blood pressure and poorly controlled blood glucose level are responsible for increasing the chances of atherosclerosis in which the blood vessels are narrowed down due to clogging. This leads to poor supply of blood and the patient suffers angina. The patient also is at increased risk of suffering a heart attack or stroke. Dyslipidemia is the condition in which there is abnormally high levels of lipids in the blood. Such a condition increases the chances of cardiovascular diseases considerably. non-alcoholic fatty liver disease is the condition in which patients have elevated liver enzymes along with enlarged liver size. Further, 40% of patients of diabetes suffer from chronic kidney disease in which damage is caused to the nerves in the body, blood vessels of the kidney and the urinary tract.

Malnutrition in patients increase the chances of complications such as developmental delay, weight loss and suppressed immunity. While developmental delay and immune system impairment are short-term complications, growth delay has long-term impacts (Ibrahim et al., 2017). Malnutrition is responsible for compromising the immune system and thus the patient is susceptible to infectious disease. Nutrient deficiency is related to gastrointestinal infections, and nutrient deficiency combined with infection is a cause of growth retardation. Malnutrition limits total bone growth. A deficiency in one nutrient might lead to another nutrient deficiency. Such deficiencies can be the cause of long-term complications such as protein deficiencies.

Diabetes has a marked impact on the lives of the patient and te family and this is more pronounced as emotional impact. The health complications related to diabetes, as mentioned above, lead to anxiety. Stress and anxiety are difficult to manage for the patient and the close ones. Since Stephanie has chances of going through stages of grief, it is natural for her to share her concerns with her family members who might be finding it difficult to come in terms with the situation. Since she does not get to spend much time with her family members due to their personal and professional commitments, she might feel stressed and depressed. Family members also suffer stress due to the depression suffered by the patient and take time to get acquainted with the patient condition (James et al., 2014). As Stephanie suffers malnutrition it is the responsibility of the family members to ensure proper nutritional intake. Having active involvement in the management of malnutrition and self-management of diabetes from the sideline is the concept that describes the participation of the family members in care process of Stephanie (Hockenberry & Wilson, 2014).

Associated functional impairment related to this case study

In the present case Stephanie has been suffering from malnutrition that leads to functional and cognitive impairments. Malnutrition has a negative impact on brain development that is responsible for delaying cognitive and motor development. Such impairments include impaired school performance, attention deficit disorder, learning disabilities, decreased intellectual ability and reduced problem solving ability (Prado & Dewey, 2014). Since Stephanie is 15 year old implying that she is still a student, her health condition might be interfering with her academic performances. According to Huysentruyt et al., (2017) cystic fibrosis has been indicated to have a strong relation with functional impairments. The symptoms of cystic fibrosis vary between patients and include bowel symptoms such as stomach ache, bloating and constipation, and respiratory symptoms such as coughing, fever and shortness of breath. Such conditions make it difficult for the patient to maintain stable lifestyle. In the present case, Stephanie has been taking Creon which is a prescribed medicine for treating individuals not able to digest food in a normal manner. The condition is due to cystic fibrosis and can lead to difficulties in mobility. Further, cystic fibrosis leads to swelling of the ends of fingers as they become rounder in shape. This condition is known as clubbing and patients have difficulty in holding with their fingers. Further, people with cystic fibrosis are at increased risk of suffering from thinning of bones. Patients with the disease have low bone density and muscle weakness is common. Stephanie is therefore at risk of suffering bone injuries.

Challenges might be faced by Stepahine while feeding and undertaking regular activities of living such as washing and bathing. Since Stephanie needs insulin administration, it is obvious to find her in an inactive condition at certain instances. Further, she is responsible for using inhalers and nebulisers which indicate that she might face functional difficulties related to such conditions (James et al., 2014).

Complexity of caring for the person in the community and the proactive care intended to keep the client well

Cystic fibrosis is a multisystem disease that needs comprehensive care for best patient outcomes. The challenges and complexities of caring for patients is noteworthy, and the same is more prominent in the present case since the patient is an adolescent. Since a long time, holistic care for adolescent cystic fibrosis patients has been well discussed in literature (Steinkamp et al., 2015). Health-related quality of life for Stephanie is of prime significance in early adulthood, such as that of Stephanie, when the psychosocial and developmental transitions are taking place. The main difficulty in taking care of Stephanie relates to the fact that the patient suffers social isolation and is not provided with adequate affection as desired. Since her parents are not in a position to devote quality time for her, and her siblings too are not present with her, the psychological impact on the patient is mostly negative. Opoka-Winiarska et al., (2015) had stated that patients with cystic fibrosis need to establish strong relationship with family members and the new needs of the patient are to be addressed adequately. In such a case where there is no strong bond of Stephanie with the family members, it might be difficult for her to adhere to the care plan outlined as per her needs. The rationale behind this statement is the risk of mismanagement since cystic fibrosis care needs professional and skillful management.

Recommendation of resources/ services that are needed for caring for the client including pharmacological management

Cystic fibrosis demands multisystemic involvement of care specialists whoa re responsible for treatment and follow up care. The primary goal of care plan for Stephanie would include maintenance of lung function near to normal, administration of nutritional therapy, management of complications, and emotional and social support (Smyth et al., 2014). Lehne and Rosenthal (2014) pointed out that medication management is an integral part of cystic fibrosis care plan. Such medications re to include mucolytics, mutlivitamins, pancreatic enzyme supplements, bronchodilators, anti-inflammatory agents and agents administered for treating associated complications. A medication known as Ivacaftor might be given to the patient that is known to bring improvement in the functioning the lungs and reduction in the amount of salt in sweat. The patient is to be referred to chest physical therapy that works by loosening the thick mucus in the lungs. A therapist heps with this process who demonstrates breathing techniques as well. Pulmonary rehabilitation might be recommdned for improving overall well being. Such a rehabilitation can be done in community centre and would include physical exercises improving mobility, nutritional counselling, patient education (Regan et al., 2014). Nutritional support for the patient is crucial and thus a proper diet chart is to be outlined as per Stephanie’s body requirements sicne she is suffering from malnutrition. A nutritionist is to be consulted for this purpose who is to guide the patient with adequate nutritional intake. She might be advised to intake special fat-soluble vitamins and supplementary nutrition apart from maintaining sufficient fluid intake.

Coping and support play a key role in managing cystic fibrosis and Stephaine needs to be referred to the local support group who work by providing coping strategies. Stephanie can meet other individuals and adolescents with cystic fibrosis and share experiences and feelings. This is an effective method of eliminating chances of suffering depression (Tointon & Hunt, 2016). Family therapy would be beneficial in strengthening the relationship between the patient and her family members (). The family members are to be counselled to spend quality time with the patient so as to eliminate risks of social exclusion and depression due to health complications. Addressing psychosocial issues is important for adolescent patients in order to achieve desired patient outcomes.

Conclusion

The present paper was a case study analysis on a 15-year-old patient suffering from cystic fibrosis together with malnutrition and diabetes. The comorbidities of diabetes and malnutrition are well established in literature that guides the way of addressing the patient condition. A comprehensive and holistic care approach is required in the present case for improving quality of life of the patient and managing the multifactoral health complications in an adequate manner.

References

Coyne, I., Sheehan, A. M., Heery, E., & While, A. E. (2017). Improving transition to adult healthcare for young people with cystic fibrosis: A systematic review. Journal of Child Health Care, 1367493517712479. DOI: https://doi.org/10.1177/1367493517712479

Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature Reviews Genetics, 16(1), 45-56. DOI: 10.1038/nrg3849

Hall, J. E. (2015). Guyton and Hall Textbook of Medical Physiology E-Book. Elsevier Health Sciences.

Hockenberry, M. J., & Wilson, D. (2014). Wong's Nursing Care of Infants and Children-E-Book. Elsevier Health Sciences.

Huysentruyt, K., Hauser, B., De Wachter, E., Malfroot, A., Van De Maele, K., Gies, I., & De Schepper, J. (2017). SUN-P263: Handgrip Force in Children and Adolescents with Cystic Fibrosis: Impact of Nutritional and Pulmonary Status. Clinical Nutrition, 36, S151. DOI: https://dx.doi.org/10.1016/S0261-5614(17)30366-7

Ibrahim, M. K., Zambruni, M., Melby, C. L., & Melby, P. C. (2017). Impact of childhood malnutrition on host defense and infection. Clinical microbiology reviews, 30(4), 919-971. DOI: 10.1128/CMR.00119-16

James, S. R., Nelson, K., & Ashwill, J. (2014). Nursing Care of Children-E-Book: Principles and Practice. Elsevier Health Sciences.

Lehne, R. A., & Rosenthal, L. (2014). Pharmacology for Nursing Care-E-Book. Elsevier Health Sciences.

Martin, S. L., Saint-Criq, V., Hwang, T. C., & Csanády, L. (2017). Ion channels as targets to treat cystic fibrosis lung disease. Journal of Cystic Fibrosis. DOI: https://doi.org/10.1016/j.jcf.2017.10.006

Opoka-Winiarska, V., Cofta, S., Mazurek, H., & Kozielski, J. (2015). Problems of patients with cystic fibrosis during transition to adulthood. Advances in Respiratory Medicine, 83(5), 394-400. DOI: 10.5603/PiAP.2015.0064.

Prado, E. L., & Dewey, K. G. (2014). Nutrition and brain development in early life. Nutrition reviews, 72(4), 267-284.DOI: https://doi.org/10.1111/nure.12102

Regan, A., Lynch, S., Mason, E., Davies, R., Evans, C., Whitehouse, J. L., ... & Nash, E. F. (2014). A prospective cohort study examining the prevalence of emotional and behavioural difficulties in children of patients with cystic fibrosis (CF). Journal of Cystic Fibrosis, 13, S114. DOI: https://dx.doi.org/10.1016/S1569-1993(14)60395-7

Smyth, A. R., Bell, S. C., Bojcin, S., Bryon, M., Duff, A., Flume, P., ... & Sermet-Gaudelus, I. (2014). European Cystic Fibrosis Society standards of care: best practice guidelines. Journal of cystic fibrosis, 13, S23-S42. DOI: https://doi.org/10.1016/j.jcf.2014.03.010

Steinkamp, G., Stahl, K., Ellemunter, H., Heuer, E., van Koningsbruggen-Rietschel, S., Busche, M., ... & Patient Experience Working Group. (2015). Cystic fibrosis (CF) care through the patients' eyes–A nationwide survey on experience and satisfaction with services using a disease-specific questionnaire. Respiratory medicine, 109(1), 79-87. DOI: https://doi.org/10.1016/j.rmed.2014.11.007

Stoltz, D. A., Meyerholz, D. K., & Welsh, M. J. (2015). Origins of cystic fibrosis lung disease. New England Journal of Medicine, 372(4), 351-362. DOI: 10.1056/NEJMra1300109

Tointon, K., & Hunt, J. (2016). How holistic nursing can enhance the quality of life of children with cystic fibrosis. Nursing children and young people, 28(8), 22-25. DOI: 10.7748/ncyp.2016.e753