The mother wants to know what cystic fibrosis is
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
The mother wants to know what cystic fibrosis is
Cystic fibrosis is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. It causes these fluids to become thick and sticky. They then plug up tubes, ducts and passageways. Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis trans-membrane conductance regulator proteins. This protein is responsible for regulating the flow of salt and fluids in and out of the cells in different parts of the body. The thick mucus can block tubes that carry digestive enzymes from your pancreas to your small intestines. Without these digestive enzymes, the intestines aren’t able to completely absorb the nutrients in the food you eat and the result is often poor weight gain and growth, and foul-smelling, greasy stools.