Adult Client with Childhood Disease-Cystic Fibrosis
Candace Tiley
GCU RN-BSN
Health Assessment
NRS-434V
Kathy Karlberg
August 01, 2013

Adult Client with Childhood Disease-Cystic Fibrosis
CLC GROUP ASSIGNMENT-SPEAKER NOTES
Candace Tiley
#1- A clinical description and definition of the disease
Definition:
Cystic Fibrosis is one of the major life-threatening disorders that affect vital organs such as the lungs, pancreas, liver, and intestines. It is a genetic disorder of the exocrine glands, also called the secretory glands, which are the glands that produce and secrete mucus and sweat. CF affects all races but primarily affects Caucasians of European descent. This disease affects about 30,000 people in the United States and 70,000 people worldwide. In the U.S. nearly 5% of the population carries the defective CFTR gene. There are a high number of asymptomatic carriers. (Scott, 2013)
Cystic Fibrosis causes severe damages to cells of the body that produce mucus, sweat, and digestive juices. Under normal conditions, these secretions from the body are usually thin and slippery. However, in people diagnosed with CF, the defective gene causes the secretions to become thicker and stickier. This leads to a plugging up of tubes, ducts and passageways, particularly in the lungs, sinuses, pancreas, intestines, hepato-biliary tree, and the vas deferens. (Hopkin, 2009)
Cystic Fibrosis is characterized by abnormal movement of chloride and sodium ions across the epithelial membrane. This leads to the formation of thick, viscous secretions along the tubes and passageways leading to blockage of the passageways. (Gardner, 2007)
Clinical Description:

CLC GROUP ASSIGNMENT-SPEAKER NOTES
Candace Tiley
If a newborn fails to pass a meconium stool within the first 48 hours this may be the first sign of CF. Additionally, subsequent stools may appear large, bulky, fatty, greasy and foul smelling. (Gardner, 2007) Most children’s CF is diagnosed by their first birthday. A child or adult affected with CF may have trouble gaining or maintaining weight due to problems with nutritional absorption. Easy bruising is an issue due to decreased ability to absorb vitamins A, D, E, and K. Respiratory S&S include a chronic moist, productive cough. This child and adult will have a lot of accumulated secretions and chronic purulent nasal discharge and recurrent episodes of bronchitis and bronchopneumonia. These people often develop a barrel shaped chest. They may develop cyanosis and clubbing of their fingers and toes. (Amaral & Kunzelmann, 2011)

#2-Pathophysiology and history of the disease or illness
History: Cystic Fibrosis dates back to 3,000 BC. Although, certain aspects of the disease were identified earlier, it wasn’t until the 1930’s before the entire clinical spectrum of CF was recognized. Prior to the 1930’s most cases of Cystic Fibrosis were often misdiagnosed as whooping cough, chronic bronchitis or pneumonia. (Hopkin, 2009) In the 1950’s, children born with this disease rarely survived to enter the first grade. Today the median life span for Americans with CF is 37.4 years with more than 40% of the people living with CF being over 18 years old. (Gardner, 2007) The name Cystic Fibrosis is derived from the cysts and scarring (fibrosis) formed within the lungs and pancreas due to the secondary infections that come along with the disease. (Amaral & Kunzelmann, 2011) During the late 1980’s, further research studies that were conducted on CF led to the discovery of the trans-membrane conductive regulator gene which is also believed to be responsible for most mutations causing the disease. By the 1990’s, gene Replacement therapies (GRT) were considered as the most suitable form of treatment for CF. In addition, the first drug specially designed for treating the disease called Pulmozyne was invented and approved by the United States food and Drug Administration. Currently more research is being conducted to establish the most suitable methods for diagnosing and treating the disease. (Rosaler, 2007)
Pathophysiology:
This disorder results from mutations in the gene for the protein cystic fibrosis trans-membrane conductance regulator (CFTR). Cystic fibrosis trans-membrane conductance regulator is the protein which regulates the components of sweat, digestive fluids and mucus in the body. CFTR also regulates the movement or transportation of chloride and sodium ions across epithelial membranes such as the alveolar epithelia located in the lungs. A normal healthy person has two working copies of the CFTR gene. CF develops when both copies of CFTR genes are missing in the body as a result of the gene mutations. (Hurt & Bilton, 2012)
There are several mutations in the CFTR genes. Different mutations cause different defects in the CFTR proteins. This may lead to either mild or severe cases of Cystic Fibrosis depending on the type of mutation.
In the United States, the most common type of mutation in Cystic fibrosis trans-membrane conductance regulator genes which causes CF is F508-CFTR which occurs in more than 90% of patients with CF. F508-CFTR mutation leads to abnormal folding of the protein. Other mutations result in premature production of proteins, hence, leading to truncation of the proteins. In some cases, the mutations may produce proteins which do not use energy normally or do not permit the movement of chloride, iodide and thiocyanate across the epithelial membranes appropriately. Some mutations may also lead to the production of fewer copies of cystic fibrosis trans-membrane conductance regulator proteins. A protein that is produced during the mutations is attached to the outer membrane of cells in the sweat glands, lungs, pancreas, and other exocrine glands in the body. (Amaral & Kunzelmann, 2011).
The leading cause of illness and ultimately to the death of patients with CF is pulmonary complications. Mucous glands and secretory ducts are found in the submucosal layer that lines sections of the respiratory tract. In healthy people, thin, salt-containing mucus bathes the exposed surfaces of the respiratory tract, trapping debris and pathogens that are swept out of the lungs by cilia. The CFTR gene dictates instructions to the transmembrane protein that actively transports chloride ions. All exocrine cells that produce watery sections contain this protein. When it malfunctions, as it does in people with CF who have the CFTR mutation, the result is too little chloride and too much sodium transport from the mucus. The water is depleted by the sodium, which causes reduced volume and thickened secretions. The resulting sticky mucus accumulates and obstructs airflow in bronchioles and small bronchi. Chronically dilated and abnormally thick-walled bronchi, known as bronchiectasis, usually occurs in patients over time. The chronic inflammation causes loss of elasticity, muscle integrity, and cartilage. The impaired mucociliary clearance causes stagnant mucus to harbor bacterial growth and infection. (Scott, 2013)
The bronchi and submucosal glands are affected first, and the lungs’ interstitial tissue and alveoli are affected in the final stages of cystic fibrosis lung disease. Researchers believe the sinuses harbor bacteria that may lead to serious lung infections.

There are three factors that increase the CF patients’ susceptibility to bacterial infections. 1-decreased bacteria clearance, 2-intrinsic hyper inflammation and 3-defective bacterial destruction mechanism in the airway’s macrophage cells which leads to decreased destruction of microorganisms. (Scott, 2013)
Three leading microbes causing infection are: P aeruginosa, Staphylococcus aureus, and Haemophilus
The progression of lung disease:
Patients initially have chronic bronchitis and bronchiolitis but over the years, the airway walls change structurally, which causes the development of bronchiectasis and inhibited mucus clearance. The surrounding airway parenchyma is damaged by changes to protein enzymatic activity. Mucus viscosity increases as dead neutrophils, or white blood cells, and bacteria that release DNA build up. Mucus plugs up the airways, causing further bacterial persistence and airway damage. All of these processes contribute to the ongoing battle of bacterial persistence and progressive lung disease in CF. (Hopkin, 2009)
As chronic infection and inflammation progress with the longevity of the disease the production of highly viscous secretions that block the airways and promote vasoconstriction of micro-vessels, the patient might experience altered ventilation and perfusion or gas exchange. Air can become trapped in the lungs and emphysematous bullae, or severely enlarged air sacs, can develop. The bullae can rupture, causing pneumo-thorax. Chronic inflammation also results in enlarged and tortuous bronchial arteries that can spontaneously rupture. A possible complication is hemoptysis, or blood discharging from the lungs. Hemoptysis might require embolization of the pulmonary artery or lobectomy to control hemorrhage. (Hopkin, 2009)

3#-Explanation of the impact of this disease on adults to the health care system and nursing practice.
Although more than 80% if the newly diagnosed patients are under age 3, nearly 10% are 18 or older when first diagnosed. Those have frequently been mis-diagnosed earlier as having asthma or chronic bronchitis.
The CDC recommends that states include testing for CF in newborns screening blood work. Newborns with CF have an elevated serum level of pancreatic enzyme trypsinogen and can then be referred for further testing.
The Gold Standard for diagnosis is the sweat chloride test (pilo-carpine iontophoresis). This test stimulates the production of sweat, then measures the amount of sweat electrolytes. A sweat chloride concentration is normally less than 40mEq/L; a level greater than 60 mEq/L indicates CF. For an infant younger than 3 months, a chloride content over 40 mEq/L is considered borderline for the diagnosis. (Gardner, 2007)
An adult with CF will need to pay attention to special dietary needs. Because their body can’t readily absorb nutrients and vitamins from food, they need a well-balanced, high-calorie diet plus they will need to take supplemental vitamins. Taking exogenous pancreatic enzymes will help them absorb nutrients. As this patient grows older and moves into adulthood their pulmonary disease will progress. They will have chronic weight and nutrition issues because of their increased pulmonary energy requirements. It will be important to focus their diet on complex carbohydrates and fats. This patient will experience exacerbations of their pulmonary condition. This is characterized by shortness of breath and, therefore, the increased workload of breathing and may cause the patient to experience such symptoms as anorexia, nausea, or early satiety. If this patient experiences difficulty consuming enough sustenance supplemental nutrition via enteral or parenteral routes may need to be considered.
As the patient with CF ages new health problems may arise. All patients with CF have respiratory issues. More than 95% of patients with CF eventually die of pulmonary disease.
Gastroesophageal Reflux Disease (GERD):
In many cases the chronic coughing and the forced respirations during chest physiotherapy can lead to GERD. (Gardner, 2007)
Pancreatic Problems:
Most patients with CF suffer pancreatic damage from blocked pancreatic ducts. Due to the blocked ducts the enzymes needed to digest fats and proteins aren’t released. Therefore, fats and proteins are poorly digested. More than 90% of patients with CF have pancreatic insufficiency that can, at times, lead to pancreatitis. The S&S for pancreatitis are severe epigastric pain, N&V, abdominal distension, tachycardia, and fever. (Gardner, 2007)
Intestinal Obstruction: Thick intestinal secretions continue to be an issue for patients with CF for their entire life. This can lead to an intestinal obstruction. S&S= distension & pain, vomiting, constipation, dehydration, and electrolyte imbalance. (Gardner, 2007)
Diabetes:
Glucose Intolerance: This can become an issue for adults with CF. Becomes more of a problem with advancing age. It affects 20-30% of CF patients over the age of 20. (Gardner, 2007) Patients who develop Cystic Fibrosis related diabetes usually have more severe pulmonary disease, poorer nutritional status, and a shorter life expectancy.
Reproductive Problems:
CF affects the reproductive system of both men and women. Most men are sterile due to the effects of CF. Abnormal secretions block sperm in the vas deferens. Women have normal functioning ovaries and fallopian tubes, but becoming pregnant may be difficult because thick secretions may block sperm from entering the uterus.
Transplant?
When a patient has severe lung disease, a lung transplant may be an option. It’s estimated that 120-150 patients with CF have lung transplants each year with about 90% of them surviving 1 year after the transplant and 50% surviving at least 5 years. The surgery may be double-lung transplant from a cadaver or, much less commonly, lower lobe transplants from two living donors. While the transplanted lungs have the advantage of not having the defective gene that produces the thick tenacious mucus, the condition of the patients other organs will remain unchanged and unimproved by the transplant. Unfortunately, this patient may have a long wait for donated lungs. The immunosuppressive drugs required to prevent organ transplant rejection create increased risk for infection and malignancies. (Gardner, 2007)
Impact on Healthcare System and Nursing:
The impact of this disease in an adult or even a child to our health care system is astronomical. With the improvements in diagnosing and treating and the subsequent increase in life expectancy of patients with CF medical resources in the health care services have become more strained due to the increase in number of CF patients living longer lives. A person with CF is a patient who requires a lot of medical care. Additionally, parents need emotional support due to the stressors of raising a child with such a complex life-threatening disease process. (Rosaler, 2007)

As these patients grow older other issues become an impact. There are the demands of the multiple never-ending treatments, the multiple hospitalizations. One of the biggest concerns is the financial burden. (Gardner, 2007)
It is important from the moment of diagnosis to educate the patient and the people who serve as their support system. That education will need to be ongoing throughout their life time. This is a patient who will likely be facing complex end-of-life issues at a relatively young age. It will be important for the nurse to talk them about Advanced Directives if the patient hasn’t addressed that issue. A patient with CF and their family have tremendous physical, psychosocial, and educational needs. They will require comprehensive care from a multidisciplinary approach. One of the positive things that has come out of CF as a disease process is that research on CF has led to the development of new medications which can be used to treat disease. For example, antibiotics and other medications that can be used to treat lung infections and lessening the work of breathing difficulties have been developed and proved useful in not only treating CF but other respiratory illnesses as well. (Hopkin, 2009)

References
Amaral, M. D., & Kunzelmann, K. (2011). Cystic Fibrosis: Diagnosis and Protocols-Methods and Resources to Understand Cystic Fibrosis (Volume II ed.). New York: Humana Press.
Gardner, J. (2007, July). What You Need to Know About Cystic Fibrosis. Nursing 2007, 52-55. Retrieved from www.nursingcenter.com
Hopkin, K. (2009). Understanding Cystic Fibrosis: Understanding Health and Sickness. Jackson: University Press of Mississippi.
Hurt, K., & Bilton, D. (2012). Cystic Fibrosis. Medicine, 40(5), 273-276. Retrieved from ehis.ebscohost.com.library.gcu.edu:2048
Rosaler, M. (2007). Cystic Fibrosis: Genetic and Developmentsl Diseases and Disorders. New York: Rosen Publishing Group.
Scott, A. (2013, May/June). Cystic Fibrosis. Radiologic Technology, 84(5), 493-502. Retrieved from ehis.ebscohost.con.library.gcu.edu:2048