Cystic fibrosis is a chronic, progressive and often deadly genetic disease that affects the body’s mucous glands. It follows that cystic fibrosis (CF) is evident in the body’s digestive and respiratory systems, particularly in children and young adults (Flume et al., 2007). In some cases, it affects the reproductive system and the sweat glands. A CF-like disease has been known over the past two centuries, but it was in 1938 that the term cystic fibrosis was first used.
CF may also be considered to be an autosomal-recessive disease. Its estimated heterozygote occurrence is one for every twenty for the white population. Each child born of two heterozygote white parents has a 25% likelihood of developing CF (Flume et al., 2007). It follows that this disease is the most frequent of lethal genetic diseases among white people. In the United States, the prevalence is 1 per 3,350 for white people of northern European ancestry (Sharma, 2006). For the Hispanics, it is 1 per 9,500 population; fro Africans, it is 1 per 16,000 population; and for Asians, it is 1 per 31,000 population.
The pattern demonstrated by the disease is different from one patient to another. It affects different people in various ways and with varying intensity. Nonetheless, the problem remains consistent – complications in the sweat- and mucus-producing glands (Flume et al., 2007). A CF patient loses a lot of salts while sweating. This results in an imbalance in the level of minerals in the blood, which leads into irregular heart rhythms. In severe cases, the irregularity in heartbeat may cause shock. The mucus in these patients is often thick and accumulates in lungs and intestines. This results in frequent respiratory infections, stunted growth, malnutrition, difficulty in breathing, and ultimately, permanent lung damage. The primary cause of death for CF patients is lung disease but CF, by itself, causes several other medical problems (Sharma, 2006). This paper discusses the diagnosis, treatment and prognosis of CF, and also reviews research in the new treatment.
Diagnosis of Cystic Fibrosis
The sweat test, which measures the level of sodium chloride in the sweat is the most standard diagnostic test for CF. While conducting this test, a patch of the skin is made to sweat by applying pilocarpine and a mild electric current. The sweat is usually analyzed thirty minutes later (Sharma, 2006). If the level of salt is found to be abnormally high, it suggests that the individual has CF.
Another type of test would be the immunoreactive trypsinogen (IRT), commonly used for infants because they do not produce enough sweat (Borowitz et al., 2009). In IRT, blood is obtained from the new-born two or three days after birth, and then tested for a particular protein referred to as trypsin. Even when these tests turn out to be positive, they have to be confirmed using the sweat test. Other viable ways of diagnosing CF include sputum cultures, lung function tests, and chest x-rays.
Treatment of Cystic Fibrosis
Like any other genetic disease, CF would require gene therapy at an early age for prevention or cure. Gene therapy in CF treatment would serve to repair or replace the defective gene. An alternative for treatment would be to give the CF patient the active form of the protein that is lacking or insufficient (Sharma, 2006). However, there is no gene therapy or any other type of treatment existing at the moment for CF; but there are several drug-based techniques that are still being tested. What is being done currently is easing the symptoms of CF or slowing the progress of the disease to improve the patient’s quality of life.
The involvement of CF is considerably complicated and multisystemic and requires high-level care by specialists. Therefore, treatment and follow-up care at specialty institutions with multidisciplinary health care professionals are recommended. The patient should undergo baseline evaluation as soon as the diagnosis is confirmed. At this point, the specialists are likely to carry out thorough investigations and initiate therapy. The patients and their family members will have to be educated about the disease and showed airway clearance techniques and the use of the equipment that would be provided to the patient. Even in cases where the patient exhibits some complications that would demand hospital admission, these procedures may be carried out during the hospitalization period. The outpatient follow-up appointments occur in the intervals of two or three months (Sharma, 2006). The medications used to treat CF patients may include multivitamins, bronchodilators, anti-inflammatory agents, pancreatic enzyme supplements, and nebulized, oral, inhaled, or intravenous antibiotics. The patient would also need to take in insulin or bisphosphonates, which are agents used to treat associated complications and conditions. Other medications include agents meant to potentially reverse the inconsistencies in chloride transport, such as lumacaftor and ivacaftor.
In the case of acute pulmonary exacerbation and severe complications, there is a need for hospital admission for immediate treatment. If the acute pulmonary exacerbation is mild, it may be treated effectively at home provided some measures are considered. First, airway clearance would have to be used more frequently, and the patient would have to undergo chest physical therapy and postural drainage (Sharma, 2006). Second, the patient would have to use oral antibiotics such as oral fluoroquinolones. Finally, the dose of the mucolytic agent Pulmozyme would have to be increased.
The Pulmonary Therapies Committee of Cystic Fibrosis Foundation suggests the widespread application of hypertonic saline for CF patients who are older than five years to improve the functioning of the lungs and minimize the amount of exacerbations (Mogayzel et al., 2013). When meconium ileus is diagnosed before birth, prompt referral to a secondary or tertiary care center is recommended to manage the needs of the mother, child, neonate, and family (Borowitz et al., 2009). The appropriate team to deal with such a situation should comprise pediatric surgeons, obstetricians, neonatologist, perinatologists, and CF specialists.
Diet and Exercise
A CF patient needs to take a normal diet with more energy and unrestricted fat. Such diet should also include supplemental vitamins, particularly the fat-soluble ones, and minerals to compensate for malabsorption and the additional energy demand that results from chronic inflammation. In the case of children, the evaluation and modification of energy requirements depend on the gain in weight and growth of the child. This is because children tend to participate in many physical activities and changing eating habits (Borowitz et al., 2009). A special consideration goes to female patients who would probably face delayed puberty resulting from malnutrition, CF patients who also suffer from diabetes mellitus or liver disease. For those CF patients who live in hot climate regions, an extra salt consumption is recommended, particularly when they take part in physical activities, which increase the rate of sweating.
Some patients take nutritional supplements in the form of enteral feeds such as high-fat mixtures and elemental formulas, or high-energy oral preparations such as scandishake through a gastrostomy or nasogastric tubes. In one study, gastronomy tube placement was found to bring a considerable improvement to the percent-predicted FEV1 and percentile body mass index in female pediatric patients and male patients (Best et al., 2011). The study also showed that the improvement in lung function as a result of this procedure was not dependent on the level of lung function before the process.
Prognosis
On a global scale, the median life expectancy for CF patients is 36.9 years, but it varies from country to country. Nonetheless, advancements made in medical and surgical treatment techniques have raised the prognosis over the past three decades. For instance, an individual born in the United States today and diagnosed with CF has a high likelihood of lasting more than forty years (Sharma, 2006). Moreover, it is important to consider that the life expectancy is higher males than females. With the treatment methods used currently, more than three-quarters of patients are expected to at least reach adulthood. Regardless, this disease causes many deaths because there is not yet a cure.
Conclusion and Research in New Treatment
So far, the research in better treatment approaches for cystic fibrosis has raised the average survival age of CF patients. Currently, many drugs that may help CF patients manage the disease are being tested (Mogayzel et al., 2013). For instance, prevention and treatment of respiratory infections have reduced the brutal cycle of bronchiectasis among CF patients. Antibiotics intended for the treatment of P. aeruginosa are already being developed.
Among the most promising developments in drug therapies for CF are new medications that have been designed to correct the abnormality in the cystic fibrosis transmembrane regulator (CFTR) protein. The advancement and timely clinical research of these drugs have been challenging and time-consuming, nonetheless, because the problems in protein production vary with the gene mutations in the CF patient (Mogayzel et al., 2013). Hence, these drugs are specific to certain gene mutations. Some of these drugs have been found to be effective in improving sweat chloride levels and nasal potential differences, which is a method used for the direct measurement of salt transport across nasal walls.
The life expectancy of the CF patients has improved significantly over the past three decades, as well as advancements in the understanding of the primary pathophysiology of CF. Since one particular deviant gene and its resultant protein have been discovered, studies may concentrate on the best approaches to correct this defect (Mogayzel et al., 2013). If such studies result in a further improvement of the life expectancy of CF patients over the next few decades, then their lifespan would be somewhat like that of ordinary people, who do not have CF. Regardless, the application of the findings made in these studies would only constitute a fraction of the effort. Additional research and focus on the management of CF patients are required to maximize the length of life, as well as the quality of life, for CF patients.
References
Best, C., Brearley, A., Gaillard, P., Regelmann, W., Billings, J., Dunitz, J., & Schwarzenberg, S. J. (2011). A pre-post retrospective study of patients with cystic fibrosis and gastrostomy tubes. Journal of pediatric gastroenterology and nutrition, 53(4), 453-458.
Borowitz, D., Robinson, K. A., Rosenfeld, M., Davis, S. D., Sabadosa, K. A., Spear, S. L., & Marshall, B. C. (2009). Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. The Journal of Pediatrics, 155(6), S73-S93.
Flume, P. A., O'Sullivan, B. P., Robinson, K. A., Goss, C. H., Mogayzel Jr, P. J., Willey-Courand, D. B., & Rosenblatt, R. (2007). Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.American journal of respiratory and critical care medicine, 176(10), 957-969.
Mogayzel Jr, P. J., Naureckas, E. T., Robinson, K. A., Mueller, G., Hadjiliadis, D., Hoag, J. B., & Marshall, B. (2013). Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health.American journal of respiratory and critical care medicine, 187(7), 680-689.
Sharma, G. (2006). The Pathophysiology, Diagnosis, and Investigation of Cystic Fibrosis.
