ALTERATIONS IN CELLULAR PROCESSES

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At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally.
Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.

Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
• The role genetics plays in the disease.
• Why the patient is presenting with the specific symptoms described.
• The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
• The cells that are involved in this process.
• How another characteristic (e.g., gender, genetics) would change your response.

 

 

Sample Solution

Disease: Cystic fibrosis (CF)

Symptoms:

  • Persistent cough and wheezing
  • Thick, sticky mucus buildup in the lungs
  • Frequent lung infections
  • Difficulty breathing
  • Intestinal problems, like constipation or diarrhea
  • Delayed growth and poor weight gain

Cells Involved:

  • Epithelial cells: These cells line the airways, intestines, and other organs. In CF, a defective protein (CFTR) disrupts the normal function of these epithelial cells.

Genetic Role:

  • CF is an autosomal recessive genetic disease. This means a person needs to inherit two copies of the defective gene (one from each parent) to develop the disease.

Physiological Response and Symptom Explanation:

  • Altered Mucus Production: The defective CFTR protein leads to the production of thick, sticky mucus in the lungs and intestines. This mucus clogs the airways, making breathing difficult and increasing the risk of infections. (Explains cough, wheezing, lung infections, difficulty breathing)
  • Impaired Nutrient Absorption: The thick mucus can also impair the absorption of nutrients from food in the intestines. This can lead to malnutrition and difficulty gaining weight. (Explains intestinal problems, delayed growth, poor weight gain)

Impact of Gender:

  • While CF affects both males and females, there may be slight variations in symptom presentation. Males with CF may experience more severe respiratory problems, while females may have a higher risk of fertility issues.

Impact of Other Characteristics:

  • Age: Symptoms can worsen over time, with lung function typically declining as individuals with CF age.
  • Environmental factors: Exposure to smoke, pollutants, or allergens can exacerbate respiratory symptoms.

Remember: This is a general explanation based on a well-known disease. The specific details of the case study you were provided might require a more nuanced analysis.

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