NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes

NR 507 Week 2 Discussion Part One – A five-month-old Caucasian female is brought into the clinic as the parent indicates that she has been having ongoing foul-smelling, greasy diarrhea. She seems to be small for her age and a bit sickly but, her parent’s state that she has a huge appetite. Upon examination you find that the patient is wheezing and you observe her coughing. After an extensive physical exam and work-up, the patient is diagnosed with cystic fibrosis.

1. What is the etiology of cystic fibrosis?
2. Describe in detail the pathophysiological process of cystic fibrosis.
3. Identify hallmark signs identified from the physical exam and symptoms. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes.
4. Describe the pathophysiology of complications of cystic fibrosis.
5. What teaching related to her diagnosis would you provide the parents?
   

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NR 507 Week 2 Discussion Part One

. What is the etiology of cystic fibrosis?

In cystic fibrosis, a mutation or a defect in a gene changes the protein that regulates the movement of salt in and out of cells. Cystic fibrosis, or CF, is an autosomal recessive disorder that affects the lungs, pancreas, small and large intestines, liver, gallbladder, bile ducts, sweat and saliva glands and the vas deferens. The most common symptoms of CF include persistent respiratory infections (i.e., wheezing and coughing), pancreatic insufficiency (i.e., greasy, foul-smelling stools), and elevated sweat chloride levels (Katkin, 2017).  The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes. Children need to inherit one copy of the gene from each parent to have the disease. If children inherit only one copy, they will not develop cystic fibrosis. However, they will be carriers and possibly pass the gene to their children. The mean survival rate is 40 years of age (Van Biervliet et al., 2016). CF is the most common and fatal autosomal recessive disease among Caucasians. About 10 percent of CF cases are diagnosed after the patient is ten years of age.

2. Describe in detail the pathophysiological process of cystic fibrosis.

CF is associated with deficient epithelial chloride ion transport (McCance et al., 2013). The CF gene can be found on chromosome 7 and has six classifications that differ in severity (McCance et al., 2013). Research states that “the cystic fibrosis transmembrane conductance regulator (CFTR or CFTR) gene mutation results in the abnormal expression of cystic fibrosis transmembrane conductance regulator protein, which is a cyclic adenosine monophosphate (cAMP)-activated chloride channel present on the surface of many types of epithelial cells including those lining the airways, bile ducts, the pancreas, sweat ducts, and the vas deferens” (McCance et al., 2013). NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes.

Most commonly the CF genetic mistake is the DF508 protein that results in hypochloremia that progresses to lung issues related to thick mucus which inhibits proper air exchange that leads to infections, lung damage, and could ultimately lead to respiratory failure (CFF, n.d.). Patients display a variety of symptoms from the salty-tasting skin, to a cough, frequent respiratory infections, wheezing, dyspnea, clubbing, poor weight gain even though there is a good appetite, and stools can range from greasy to difficulty in having bowel movements (CFF, n.d.). The patient is five months old (the median age at diagnosis is six months), is experiencing greasy, foul-smelling diarrhea, small for her age, coughing, and wheezing, which are classic symptoms of CF. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes. If the disease presents itself later in life, the patients typically have milder symptoms as opposed to diagnosing the patient within the first year of life. The severity of the disease depends on which class it falls in; classes 4-6 experience milder symptoms than those that fall within classes 1-3 (McCance et al., 2013).  CF must be diagnosed early to improve the patient’s quality and longevity of life. After recognizing the symptoms, one must confirm their differential before giving a definite diagnosis. Screening newborns for CF is a universal protocol in the United States. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes.

3. Identify hallmark signs identified from the physical exam and symptoms.

Most common signs identified in the physical exam would be common symptoms of CF include persistent respiratory infections (i.e., wheezing and coughing) noted upon examination. Pancreatic insufficiency (i.e., greasy, foul-smelling stools) in which the parents complained of the main reason patient was brought into the clinic. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes. A patient is Caucasian CF affects 1 in 3,000 Caucasians (Katkin, 2017). Patients age and her patient being small for five- months old.

5. Describe the pathophysiology of complications of cystic fibrosis.

Respiratory system complications

• Damaged airways (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a condition that damages the airways. This makes it harder to move air in and out of the lungs and clear mucus from the airways (bronchial tubes).
• Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis may often have sinus infections, bronchitis or pneumonia (CFF, n.d.). NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes.
• Respiratory failure. Over time, cystic fibrosis can damage lung tissue so severely that it no longer works. Lung function usually worsens gradually, and it eventually can become life-threatening.

Digestive system complications

• Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body cannot absorb protein, fats or fat-soluble vitamins.
• Diabetes. The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes. Around 30 percent of people with cystic fibrosis develop diabetes by age 30. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes.
• Blocked bile duct. The tube that carries bile from your liver and gallbladder to your small intestine may become blocked and inflamed, leading to liver problems and sometimes gallstones.

5. What teaching related to her diagnosis would you provide the parents?

Most people with cystic fibrosis live a healthy daily life, with the challenge of incorporating daily medications, airway clearance techniques, and other treatments and medications. Children with CF grow up, go to school, have friends, have hobbies, and can exercise and play sports. Many go to college. Many marry and have families. Kids with CF need more calories than other kids in their age group. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes. The number of additional calories they need will vary according to each child’s lung function, activity level, and illness. A child’s calorie needs might be even higher during an illness (even a low-grade infection can significantly increase the calories required) (Van Biervliet et al., 2016). A CF dietitian can help you determine how many calories your child needs each day, and track growth and weight gain over time to provide a good nutrition plan. NR 507 Advanced Pathophysiology: Respiratory Disorders and Alterations in Acid/Base Balance, Fluid and Electrolytes.