cystic fibrosis - Nursing Case Study

Pathophysiology

• Primary mechanism: Mutation in the CFTR gene disrupts chloride ion transport across cell membranes, causing thick, sticky mucus to build up in lungs, digestive tract and other parts of the body.

• Secondary mechanism: The mucus clogs the airways, trapping bacteria leading to infections, inflammation, and respiratory failure. In the pancreas, the mucus prevents release of digestive enzymes, affecting absorption of nutrients.

• Key complication: Chronic lung disease due to repeated infections and blockages can lead to respiratory failure. Malnutrition and diabetes can occur due to pancreatic insufficiency.

Patient Profile

Demographics:

32-year-old male, software engineer

History:

• Diagnosed with cystic fibrosis at age 2

• Taking Pulmozyme, hypertonic saline, and high dose ibuprofen

• Allergic to penicillin

Current Presentation:

• Chief complaint: Persistent cough with thick sputum, shortness of breath, and frequent chest infections

• Key symptoms: Chronic sinusitis, fatigue, difficulty in gaining weight, male infertility, and occasional blood in sputum

• Vital signs: Pulse 110 beats per minute, respiratory rate 22 breaths per minute, blood pressure 135/85 mmHg, temperature 37.6°C (99.7°F), oxygen saturation 92% on room air

Section 1

New Diagnostic Results:

The patient's deteriorating respiratory status prompted additional diagnostic testing. A sputum culture revealed the presence of Pseudomonas aeruginosa, a bacteria commonly found in patients with cystic fibrosis. Furthermore, a Complete Blood Count (CBC) showed an elevated white blood cell count of 18,000 cells/mm3 indicative of an active infection. The pulmonary function test (PFT) results showed a marked decline in forced expiratory volume in one second (FEV1) to 45% of predicted, suggesting severe obstruction.

Change in Patient Status:

Over the next 24 hours, the patient’s respiratory status worsened. His respiratory rate increased to 28 breaths per minute and oxygen saturation dropped to 88% on room air. He reported increased difficulty in breathing and was visibly using accessory muscles. Additionally, he developed a fever of 38.6°C (101.5°F). The patient also reported increased fatigue and lack of appetite, which, coupled with his ongoing difficulty in gaining weight, raised concerns about his nutritional status.

These changes suggest an acute exacerbation of the patient's cystic fibrosis, likely triggered by a respiratory infection. The decline in his respiratory status, the presence of P. aeruginosa in his sputum, and the marked drop in his FEV1 indicate a serious decline in lung function. The increase in his white blood cell count and the new onset of fever suggest an escalating infection. The clinical picture underscores the need for immediate intervention to manage the infection and support his respiratory function, while also addressing his nutritional needs.

Section 2

Response to Interventions:

The patient was immediately started on intravenous ceftazidime and tobramycin, standard antibiotics for treating P. aeruginosa in cystic fibrosis patients. He was also given oral prednisone to reduce inflammation in his lungs and improve his breathing. Despite these interventions, the patient's oxygen saturation levels remained below 90%, necessitating the initiation of supplemental oxygen therapy via nasal cannula at 2 liters per minute.

After 48 hours, a repeat sputum culture showed a continued presence of P. aeruginosa, indicating a persisting infection. His white blood cell count remained elevated at 17,500 cells/mm3. However, the patient reported a slight improvement in his breathing and his respiratory rate decreased to 24 breaths per minute. His fever also subsided to 37.5°C (99.5°F). Despite these slight improvements, the patient's appetite remained poor and he continued to lose weight. His body mass index (BMI) fell to 18.5 kg/m2, which is considered underweight for his height.

These findings suggest that while the interventions have somewhat improved the patient's respiratory status and controlled the infection, they have not been entirely successful. The persistent presence of P. aeruginosa and the ongoing weight loss indicate that adjustments to his treatment plan are necessary. The clinical picture suggests the need for additional strategies to combat the infection and support the patient's nutritional status. This may include the addition of different antibiotics, increased respiratory support, or the initiation of a high-calorie diet and nutritional supplements.

Section 3

Response to Interventions:

Despite the addition of a high-calorie diet and nutritional supplementation, the patient's weight continued to trend downwards with a further reduction in BMI to 17.5 kg/m2. His appetite remained poor, and he reported feeling fatigued and nauseous. This prompted a consult with a dietitian who recommended pancreatic enzyme replacement therapy (PERT) to address potential malabsorption issues, a common complication in cystic fibrosis patients.

In addition to his nutritional struggles, the patient's respiratory status also remained a concern. After a week on the antibiotic regimen, a follow-up sputum culture still showed the presence of P. aeruginosa. Despite a decrease in his white blood cell count to 15,200 cells/mm3, his oxygen saturation levels fluctuated, often falling below 90% even with the supplemental oxygen therapy. This led the team to increase his oxygen supplementation to 4 liters per minute via nasal cannula. The consideration of a more aggressive antibiotic approach or the use of an inhaled antibiotic for direct delivery to the lungs was also discussed.

These ongoing challenges suggest that the current interventions are insufficient in managing the patient's condition. The persistent infection, coupled with his declining nutritional status and respiratory function, underscore the need for a more comprehensive and possibly aggressive treatment strategy. This may involve a multi-disciplinary approach including pulmonology, gastroenterology, and dietetics to address the complex needs of this cystic fibrosis patient.

Section 4

New Complications:

Shortly after the increase in oxygen supplementation, the patient began experiencing bouts of severe coughing and reported shortness of breath. His oxygen saturation levels continued to fluctuate, dropping to 88% even with the increased oxygen. A chest X-ray was performed, revealing a patchy consolidation in the lower lobes of the lungs, suggestive of a developing pneumonia. His respiratory rate increased to 28 breaths per minute, and he was noted to have use of accessory muscles on inspiration. Crackles were noted on auscultation bilaterally in the lower lobes.

In addition to his deteriorating respiratory status, the patient's nutritional status continued to decline. Despite the PERT, he reported persistent nausea and a lack of appetite, leading to further weight loss. His BMI dropped to 16.8 kg/m2, and his albumin levels, a marker of nutritional status, fell to 2.8 g/dL, indicating malnutrition. His stool samples tested positive for fat, confirming malabsorption. These findings suggest that the patient may be experiencing an exacerbation of his cystic fibrosis, necessitating an urgent reassessment of his treatment plan.

Section 5

New Diagnostic Results:

Given the patient's worsening respiratory status and the findings from the chest X-ray, sputum culture and sensitivity tests were ordered to help identify the specific pathogen causing the pneumonia. The results showed the presence of Pseudomonas aeruginosa, which is common in cystic fibrosis patients and is often associated with worsening lung function. The sensitivity test indicated that the bacteria were resistant to certain antibiotics, necessitating the need for a more aggressive antibiotic regimen.

Meanwhile, the patient's fecal elastase level, a biomarker of pancreatic function, was remarkably low at 100 μg/g stool, confirming pancreatic insufficiency. A sweat chloride test was performed, which came back high at 85 mmol/L, falling into the diagnostic range for cystic fibrosis. These results are consistent with the patient's ongoing nutritional issues and further support the need for a comprehensive management plan that addresses both the pulmonary and gastrointestinal aspects of his condition.

These diagnostic results underscore the complexity of managing cystic fibrosis, as the disease affects multiple organ systems and often presents with resistant bacterial infections. The team must use these findings to guide their clinical decision-making and adapt the patient's treatment plan accordingly.