NR 507 Discussion What is the etiology of cystic fibrosis?

What is the etiology of cystic fibrosis?

This topic is of great interest to me because of this subject that I will be doing my presentation on, so I did a detailed search. The peer review article revealed that according to Munder& Tummler (2015), cystic fibrosis lung disease result from impaired chloride and bicarbonate epithelial transport, defective mucociliary transport, and acidification of the airway-surface liquid. In many ways, the pathophysiological process differs according to the different evidenced-based practice. “The pathophysiology of cystic fibrosis is deduced from the loss or dysfunction of CFTR in the apical epithelial membrane” Stoltz, (2015). The contributing factor is an attenuated bacteria-killing capability has reported in monocytes and macrophages isolated from people with cystic fibrosis.

The response to the peer review is” We agree with Munder and Tümmler that abnormal function in myeloid cells (i.e., neutrophils, monocytes, or macrophages) may contribute to impaired host defense in cystic fibrosis.” Stoltz, 2015. The article contains other pertinent information to describe the depth of this disease. “Specific cell types involved (monocytes, neutrophils, or macrophages) and proposed mechanisms for defects (e.g., organelle acidification, complement-mediated phagocytosis, and intraphagosomal production of hypochlorous acid) vary substantially among studies.” Stoltz (2015).

Describe in detail the pathophysiological process of cystic fibrosis.

Cystic fibrosis is the abnormal secretions that obstruct the respiratory, digestive, and reproductive tract. According to (McCance et al., 2013) research shows that there may be additional CF-associated primary defects, such as a natural proinflammatory state and abnormal local immune defenses in the lungs. “Cystic fibrosis is also associated with cystic fibrosis transmembrane conductance regulator (CFTCR) gene mutation results in the abnormal expression of cystic fibrosis transmembrane conductance regulator (CFTCR) protein, which is a cyclic adenosine monophosphate (cAMP)–activated chloride channel present on the surface of many types of epithelial cells.” (McCance et al., 2013). These cells include the lining of the airways, bile ducts, the pancreas, sweat glands, and the vas deferens. Even though cystic fibrosis affects multisystem it ultimately most often affects the lung, which is the most critical site of involvement that leads to respiratory failure and death.

Identify hallmark signs identified from the physical exam and symptoms.

Cystic fibrosis often occurs primarily in the white population; it affects 1 in 29 whites in the united states. The symptoms typically start with the respiratory and digestive systems. Respiratory symptoms include a persistent cough or wheeze, sputum production, and recurrent or severe pneumonia, and chronic sinusitis and nasal polyps. “Persistence of infection incites chronic local inflammation, airway damage, bronchiectasis, microabscess formation, and foci of hemorrhagic pneumonia.

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Describe the pathophysiology of complications of cystic fibrosis.

There is progressive damage to the typical architecture of the lung with a decline in pulmonary function.” (McCance et al., 2013. CF causes reduced hydration of airway mucus which results in increased adherence of mucus to the epithelium, making it easier for bacteria to stick to and increasing the chances of infection (McCance et al., 2013)

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

Due to the severity of the disease, it will be overwhelming and devastating to the parents, as an advanced clinical nurse I will provide them with all the information and videos available. I would also refer them to join a group of parents with children of a similar diagnosis. Advising the patient to prevent infection, adequate nutrition, and an increase in caloric intake is the primary goal to maintain a healthy lifestyle. Lastly, I would provide them with my information for them to call with any further questions.

NR 507 Discussion What is the etiology of cystic fibrosis

References:

Antje Munder, M.D. Burkhard Tümmler, M.D., Ph.D.
Hanover Medical School, Hannover, Germany (2015)
[email protected]

David A. Stoltz, M.D., Ph.D. David K. Meyerholz, D.V.M., Ph.D.
Michael J. Welsh, M.D.
University of Iowa Carver College of Medicine, Iowa City, IA (2015)

McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2013). Pathophysiology: The biologic basis for disease in adults and children (7th ed.). St. Louis, MO: Mosby.

What is the etiology of cystic fibrosis?

Describe in detail the pathophysiological process of cystic fibrosis.

Identify hallmark signs identified from the physical exam and symptoms.

Describe the pathophysiology of complications of cystic fibrosis.

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

References:

Antje Munder, M.D. Burkhard Tümmler, M.D., Ph.D.
Hanover Medical School, Hannover, Germany (2015)
[email protected]

David A. Stoltz, M.D., Ph.D. David K. Meyerholz, D.V.M., Ph.D.
Michael J. Welsh, M.D.
University of Iowa Carver College of Medicine, Iowa City, IA (2015)

McCance, K. L., Huether, S. E., Brashers, V. L., & Rote, N. S. (2013). Pathophysiology: The biologic basis for disease in adults and children (7th ed.). St. Louis, MO: Mosby.

I love your idea of a support group as I have worked in Hospice and was a Director of Nursing in Hospice. Support groups really help as caregivers can share much information and strategies that worked best for them as well as coping skills. I also think that one loses a loved one, the bond from that group becomes even stronger as they reach out to one another. I believe in the spiritual component as well as the holistic care of patient, families, and the community. There is a link and hope that comes about. I have seen those that have lost family members, especially children and through the connection of the group, have gained strength to which they help others with similar conditions. Also, education is a key factor. Evidence-based research is important but I also believe that people have to be on the same page with goals. If a patient has different goals, one can lead a horse to water but you cannot make them drink. I have seen this over and over again while doing EMS and Home Nursing. When I meet the patients while doing home-nursing, I ask them what goal do they have and do they have an emergency plan. This helps me as a clinician to see what they want and if their goal is realistic. It also helps me to develop a plan that is patient focused and addresses their wants and needs but also is realistic placing safety first. I really enjoyed your informative post.

As I read your discussion I noted the management of CF I think a multisystem approach is imperative because there are so many other systems and complications that go along with CF such as Pulmonary, Chronic infection, Bronchiectasis, Pneumothorax, Oxygen dependence Gastro-intestinal disease, Constipation and obstruction, Nutritional difficulties, Liver and gallbladder disease, Reflux and decreased motility. Then there is the Psycho-social aspect of Depression, Anxiety, Adjustment disorders, Substance abuse and addiction, Relationship problems, Work-related difficulties Treatment issues, Treatment burden, Compliance, Phobias (e.g., needle phobia). Other related conditions, CF-related diabetes, Osteoporosis, Male infertility all related to having CF(Nazareth & Walshaw, 2013). Although continuously evolving, the process should be multi-factorial, coordinated, and gradual; it should involve professional caregivers, the young person, and their family. With the multi-system complications due to CF comes a multi-disciplinary approach to the patient. With a good team of doctors and nurses, CF can help the patient live a healthy life as much as possible.

Reference

Nazareth, D., & Walshaw, M. (2013). Coming of age in cystic fibrosis – transition from pediatric to adult care. Clinical Medicine (London, England), 13(5), 482-486. doi:10.7861/clinmedicine.13-5-482

I really appreciated how in the education section you mentioned to the mother what kind of symptoms would require immediate medical attention. This is not something that I thought about mentioning, but it is, of course, extremely important information! In my education part, I focused more on helping the mother feel better about the diagnosis and the long-term effects on her daughter. You did that, but you went a step further and that caught my eye! When a healthy child contracts the flu, it can be a scary time for any parent. But when that child has Cystic Fibrosis and the flu, it can be an actual life or death situation. The flu on it’s own could lead to a worsening in symptoms for the child, but that flu could develop into pneumonia leading to a marked decrease in lung function that could ultimately result in death (CFF, n.d.). I found an interesting study, however, of a patient with cystic fibrosis that seemed to present with flu, but it turned out to be a completely different and rare disease that is not usually associated with cystic fibrosis; Kawasaki Disease. So, this teaches us that we should never take the easy way and just assume, but “when the clinical course does not follow a typical pathway including persistent, high fever, alternate etiologies must be considered” (Osborne, Stillwell, Zemanick, & Dominguez, 2017). Thank you for your very informative post!

References

Cystic Fibrosis Foundation (CFF). (n.d.). Influenza (the Flu). Cystic Fibrosis Foundation.Retrieved from https://www.cff.org/Life-With-CF/Daily-Life/Germs-and-Staying-Healthy/What-Are-Germs/The-Flu/ (Links to an external site.)

Osborne, C M., Stillwell, P C., Zemanick, E., & Dominguez, S R. (2017). An unusual cause of high fever in a patient with cystic fibrosis (cf): Kawasaki disease. American Journal of Respiratory and Critical Care Medicine, 195(1). Retrieved from https://search.proquest.com/openview/e68de8491d52556b1abe5eac540add79/1.pdf?pq-origsite=gscholar&cbl=40575

I enjoyed reading your post, especially regarding the chromosome 7 gene mutation. So, I decided to dig a bit deeper on this genetic mutation. Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, located on the long arm of chromosome 7. The first clinical description of the syndrome occurred in 1939, and the causative gene was successfully cloned in 1989(Vallières & Elborn, 2014). The CFTR protein is adenosine triphosphate (ATP)-binding cassette (ABC) transporter. Proteins in the ABC family collectively hydrolyze ATP to transport substrates such as ions, amino acids, sugars, drugs, and proteins against a concentration gradient. The CFTR protein primarily transports chloride and bicarbonate ions. Their transport unit is composed of two membrane-spanning domains and two nucleotide-binding domains. The transport cycle begins when the appropriate substrate binds to its specific site on the membrane-spanning domains. This step promotes ligation of ATP to the nucleotide-binding domains and their subsequent dimerization. This ATP-dependent step then provides energy to release the bound substrate across the cellular membrane (Vallières & Elborn, 2014). Once ATP is hydrolyzed, the nucleotide-binding domain dimer is destabilized, inorganic phosphate and adenosine diphosphate (ADP) are released, and the protein regains its basal conformational state. Consequent to insufficient or dysfunctional CFTR protein in the airway epithelium, chloride secretion, and epithelial sodium channel regulation are impaired. The endpoint is a reduction in anion secretion combined with increased sodium and water reabsorption from the ASL through the apical cellular membrane. Overall, impaired lung innate immunity predisposes to pathogen colonization, which subsequently triggers neutrophil recruitment and proinflammatory cytokine secretion (Vallières & Elborn, 2014). This attempt by the immune system is in most cases unsuccessful and leads to a deleterious cycle of persistent infection combined with deregulated inflammation. Tissue destruction ensues and results clinically in chronic respiratory disease, lung function decline, and ultimately, respiratory failure. I found this to be very interesting.

Reference

Vallières, E., & Elborn, J. (2014). Cystic fibrosis gene mutations: evaluation and assessment of disease severity. Advances In Genomics And Genetics, Vol 2014, Iss Default, Pp 161-172 (2014), (default), 161.

Cystic Fibrosis is a chronic disease that requires lifelong healthcare interventions to decrease the rate of infection and the need for a lung transplant. Cystic Fibrosis is caused by a mutation of the CF gene which is located on Chromosome 7, and the mutation varies in severity which correlates to the extent of the disease presentation (McCance & Huether, 2014). The pathophysiology process of cystic fibrosis begins with the CFTCR gene mutation that is responsible for coding a CFTR protein found in epithelial cells (McCance & Huether, 2014). The CFTR protein controls the sodium-chloride channel that controls fluid and electrolyte balances across epithelial cells (Peters, 2014). Chloride typically is utilized in the body to aid in the control of acid-base balances, osmotic pressure, hydrochloric acid production in the GI tract, and hemoglobin gas exchange (Pfortmueller, Uehlinger, von Haehling, & Schefold, 2018). The mutation causes dehydration of the airway mucus due to the abnormal chloride excretion and absorption of sodium (McCance & Huether, 2014). This dehydration leads to the increased production of mucus that lines the airways, and this increased production as well as the dehydration causes adherence of the mucus to the airways leading to decrease ciliary mobility and increased risk of infection (McCance & Huether, 2014). Patients with cystic fibrosis continually develop airway infections with contribute to continuous inflammation and damage (Peters, 2014). The problem with the alterations caused by CF lies in the continuous cycle of mucus dehydration, chronic neutrophilic inflammation, and increased mucus secretion, which all leads to bronchiectasis (McCance & Huether, 2014). This chronic issue leads to respiratory failure and death. Depending on the severity of CF a patient, like the one in the example above, may present with gastrointestinal manifestations of the disease. The pathophysiology behind the GI signs and symptoms is related to the effect the mutated gene has on the pancreas. The CFTR protein defect causes the pancreatic ducts to overproduce mucus due to the dehydration effect caused by the mutated CRTR protein cAMP chloride channel (Peters, 2014). The overproduction of mucus causes obstructions, which leads to fibrosis and results in decreased to no release of pancreatic digestive enzymes (Peters, 2014). The clinical signs and symptoms noted in the patient above exemplifies the results that occur with decreased to no release of digestive enzymes. These signs and symptoms include fat malabsorption/greasy stools, fat-soluble vitamin deficiency, and stunted growth (Peters, 2014). In the United States babies are tested at birth for CF, however hallmark signs and symptoms include wheezing, chronic cough, pneumonia, bronchiolitis, biliary cirrhosis, steatorrhea, abdominal distension (Brown, White, & Tobin, 2017). CF can cause infertility in males and females, however males are more affected than females due to the congenital absence of vas deferens (Brown, White, & Tobin, 2017). Common complications of CF include infections and decreased pulmonary functioning, both of which are attributed to increased mucus secretion and decreased ciliary movement in the upper respiratory system (McCance & Huether, 2014). Severe complications include pneumothorax which is caused by the rupture of bullae, and hemoptysis caused by chronic inflammation and bronchiectasis (McCance & Huether, 2014). Due to the severity of the complications that can occur with cystic fibrosis, it is imperative that parents are educated on preventative measures that can delay or prevent complications. Ibuprofen is recommended for children under 18 to help decrease damaging inflammation that results in complications and hospitalizations (Brown, White, & Tobin, 2017). Daily percussion and vibration routines are suggested to decrease mucus build-up, as well as early antibiotic therapy in CF patients who have signs of P. aeruginosa infections (Brown, White, & Tobin, 2017).Patients with CF who have pancreatic insufficiencies should be prescribed pancreatic enzymes that should be taken with meals and vitamin supplementation (Brown, White, & Tobin, 2017). Parents need to understand that CF is a chronic disease that requires constant management, and should be given information on support resources that can help them better manage their child’s condition.

Brown, S. D., White, R., & Tobin, P. (2017). Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment. JAAPA: Official Journal Of The American Academy Of Physicians Assistants, 30(5), 23-27. doi:10.1097/01.JAA.0000515540.36581.92

McCance, K. L. & Huether, S. E. (2014). Alterations of pulmonary function in children, Pathophysiology: The biologic basis for disease in adults and children, seventh edition (225-261). St. Louis, Missouri: Elsevier Mosby

Peters, S. (2014). Cystic fibrosis: a review of pathophysiology and current treatment recommendations. South Dakota Medicine: The Journal Of The South Dakota State Medical Association, 67(4), 148. Pfortmueller, C. A., Uehlinger, D., von Haehling, S., & Schefold, J. C. (2018). Serum chloride levels in critical illness-the hidden story. Intensive Medicine Experimental, 6(1), 1. doi:10.1186/s40635-018-0174-5

I enjoyed reading your first threaded discussion about cystic fibrosis (CF). CF is a very interesting and complex topic. Individuals with CF are able to live optimal lives due to the advents in medications and technology. Any parent that has a child that is diagnosed with CF can feel overwhelmed and scared. As future advanced practice nurses (APN) we can provide much need support and education to parents by utilizing the teach-back method and using appropriate terminology. The teach-back method is a great tool to assess a patient and or family members understanding of new information. It is imperative to present the information in terms that the individual can understand. In addition, in my opinion, I think it is important to provide the parents with realistic goals and expectations. However, letting the parents know that children with CF are able to play sports, go to college, and have a successful career provides them with much needed encouragement. I agree with you and also feel that sharing positive information would be very beneficial to any parent.

I read an article that also talked about encouraging parents to join a support group to network with other parents that have a child with CF. Talking to other parents would provide them with an opportunity to learn and receive advice from other parents. The care of a child can be burdensome, therefore encouraging teamwork will be a great solution to help spread the tasks evenly. The parents can also reach out to their friends and family for emotional support. The care of a child with CF becomes a part of a parent’s daily routine. Some of the barriers that a parent can face as the child becomes older is resistance to the care routine. The child might want to go outside and play instead of taking their medications or chest therapy. In addition, the child might develop depression associated with having feelings of being different from their friends. Starting therapy sessions with a counselor when the child is older might be valuable in helping them to adapt to their diagnosis (Grossoehme, Filigno, & Bishop, 2014, p. 134). Great first discussion. I am looking forward to reading your threaded discussions throughout the course.

Reference:

Grossoehme, D.H., Filigno, S.S., & Bishop, M. (2014). Parent routines for managing cystic fibrosis in children. Journal of Clinical Psychology in Medical Settings, 21(2),125-135. doi: 10.1007/s10880-014-9396-1

NR 507 Discussion What is the etiology of cystic fibrosis?