Cystic fibrosis
SCENARIO:
A mother brings her 6-month-old daughter to the HCP for evaluation of possible colic. The mother says the baby has had many episodes of crying after eating and, despite having a good appetite, is not gaining weight. The mother says the baby’s belly “gets all swollen sometimes.” The mother says the baby tastes “salty” when the mother kisses the baby. Further work up reveals a diagnosis of cystic fibrosis. The mother relates that her 23-month-old son has had multiple episodes of “chest congestion” and was hospitalized once for pneumonia. The mother wants to know what cystic fibrosis is and she also wants to know if she should have any more children.
Base on the above scenario, you will examine the above 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.
Assignment proper:
Write 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
Cystic fibrosis
Cystic fibrosis (CF) is a hereditary disease that affects the lungs and digestive system. The body produces thick and sticky mucus that can clog the lungs and obstruct the pancreas. CF can be life-threatening, and people with the condition tend to have a shorter-than-normal life span. Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body. Every person has two copies of the CFTR gene. A person must inherit two copies of the CFTR gene that contain mutations – one copy from each parent – to have cystic fibrosis. Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of pancreas, and complications in other organs.
