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.
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.
The physiologic response exhibited here occurs when there are disruptions in cellular regulation resulting from mutations in CFTR genes impairing regulatory functions of cells responsible for mucus production like epithelial cells found throughout respiratory systems and glands secreting digestive enzymes like pancreas acinar cells found in gastrointestinal tracts among other organs. As a result oxygen levels decrease leading to hypoxia-induced swelling seen in this case presented with increased size of belly due decreased delivery of oxygenated blood supply required for normal metabolism activities like absorption of food molecules into bloodstreams causing malnutrition metabolic insult experienced by this infant ultimately resulting in poor growth perpetuating long term health issues associated with cystic fibrosis if left untreated or unrecognized at early stages developmentally speaking.
Gender plays an important role particularly when considering genetic components linked to cystic fibrosis since it’s more commonly observed within certain sex populations though exact mechanism still remains unknown but thought possibly related paternal inheritance specific X-linked recessive trait making male gender more prone developing disorders while female carriers remain typically unaffected under normal circumstances barring presence any environmental factors directly contributing exacerbation symptomology involved conditions making relevant caretaker considerations population targeted treatments aimed minimizing effects condition over course lifetime affected individual(s).