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.

 

• 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.

 

Why the patient is presenting with the specific symptoms described.

Cystic fibrosis is a medical condition on which there is a genetic mutation that affects the regulation of salt in the body. As the chloride gets trapped in the cells, the imbalance of the consistency of secretions becomes altered, leading to thick secretions. The organs most often affected by cystic fibrosis are the lungs and the pancreas, which can lead to breathing and digestive problems. In this case, the child is afflicted with respiratory and digestive problems. As the mucus thickens in the lungs and the salt retains in the cells, pathogens and germs may attack the compromised lining of the lungs and water gets to accumulate in the lung tissues respectively. Moreover, as the pancreas gets blocked by secretions, digestive juice and enzymes do not reach the food that is eaten by the individual and lead ls to indigestion which further causes weight loss and discomfort.

The physiologic response to the stimulus presented in the scenario and why you think this response occurred.

Answer: As what one can observe from the presented scenario, the child may present colic which is typical for children afflicted with cystic fibrosis due to possible indigestion. As the pancreas becomes blocked with thick mucilaginous secretions, the pancreatic juice is unable to reach the food being eaten by the child. This leads to the incomplete digestion of food and proceeds to pain, discomfort, and weight loss that the child currently exhibits.

The cells that are involved in this process.

Answer: Secretory endothelial cells in the body containing the CFTR gene are responsible for the pathphysiology of cystic fibrosis. The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator which functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. When the protein is not working correctly, chloride which is a component of salt becomes trapped in cells. Without the proper movement of chloride, water is unable to hydrate the cellular surface. This leads the mucus covering the cells to become thick and sticky, causing many of the symptoms associated with cystic fibrosis.

How another characteristic (e.g., gender, genetics) would change your response.

Answer: There are various factors that affect the acquisition of cystic fibrosis. In terms of racial variables, the cystic fibrosis gene responsible for the disease is most common in Caucasians of northern European descent; the disease occurs most frequently in these people. Either gender is equally susceptible to the disease and mutations are equally possible.