Cystic fibrosis: Case study


A male child was born in 1980. He did not gain weight normally and had frequent, loose, foul-smelling bowel movements. At four months of age, he developed a cough that produced phlegm. A sweat test showed elevated chloride levels, which are diagnostic of cystic fibrosis.

He was referred to a CF center and was treated with pancreatic enzymes, chest physiotherapy (to clear excessive secretions in the chest), and antibiotics. He was in fairly good health for a number of years, although he struggled to gain weight and had several hospital stays for breathing problems. At age 10, he became infected with the bacterium Pseudomonas aeruginosa. His pulmonary function worsened, and he required hospital stays lasting up to two weeks once or twice a year.

At age 14, he began taking a new drug, dornase alfa, and showed improvement. Three years later, he began taking nebulized tobramycin, and showed further improvement. When he turned 18, he transitioned to an adult CF program. He continued to have frequent pulmonary exacerbations requiring repeated courses of intravenous antibiotics. He developed complications from the antibiotics, including kidney damage and hearing loss.

At age 24, he received a lung transplant. He now maintains normal lung function but takes several medications to prevent infection and lung rejection. He works part time and takes classes at a community college.

Questions to answer in your Report (FIVE):

  1. Describe and assess modern methods of screening and diagnosis of CF (15% of the mark);
  2. Outline disease epidemiology and genetic background (20%);
  3. Describe course of the disease, environment, microbes (20%);
  4. Provide information on the conventional methods of CF treatment and management (15%);
  5. Outline modern approaches to gene therapy of CF, including those currently in clinical trials (30%).

Requirements and Recommendations

  1. When answering each of the questions please clearly indicate each of them as a subheading in your report.
  2. The report should be 2000 words long, interval 1.5. Illustrations (acknowledged in the legend and included into the list of references) will be a bonus.
  3. End of the report Reference list should be provided using Harvard referencing style, and correct in the text references. Roughly 10 references will be sufficient for answering these questions.

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